Morbus Fabry (German Wikipedia)

Analysis of information sources in references of the Wikipedia article "Morbus Fabry" in German language version.

refsWebsite
Global rank German rank
4th place
7th place
2nd place
3rd place
2,106th place
139th place
68th place
29th place
3,608th place
3,223rd place
low place
low place
317th place
14th place
low place
711th place
1st place
1st place
low place
low place
low place
low place
9,726th place
1,191st place
8,614th place
583rd place
1,389th place
859th place
3,257th place
2,361st place
low place
low place
low place
9,416th place
low place
6,576th place
4,380th place
781st place
low place
low place
511th place
112th place
low place
5,704th place
low place
low place
low place
low place
407th place
1,458th place
48th place
190th place
3,043rd place
200th place
low place
7,803rd place
low place
low place
447th place
751st place
6,663rd place
4,062nd place
5,293rd place
8,650th place
5,225th place
2,461st place
3,258th place
low place
4,455th place
3,739th place

aerzteblatt.de

aerztezeitung.de

ahajournals.org

circ.ahajournals.org

stroke.ahajournals.org

ama-assn.org

jama.ama-assn.org

asnjournals.org

jasn.asnjournals.org

aspetjournals.org

jpet.aspetjournals.org

bizjournals.com

clinchem.org

clinicaltrials.gov

clinicum.at

d-nb.info

deadurl.invalid

doi.org

europa.eu

ema.europa.eu

ec.europa.eu

fda.gov

fiercepharma.com

go.com

abcnews.go.com

google.de

books.google.de

jbc.org

keionline.org

kooperation-international.de

kzbv.de

www3.kzbv.de

mementoweb.org

timetravel.mementoweb.org

morbus-fabry-ig.de

nice.org.uk

guidance.nice.org.uk

nih.gov

ncbi.nlm.nih.gov

  • B. J. Poorthuis, R. A. Wevers u. a.: The frequency of lysosomal storage diseases in The Netherlands. In: Human genetics. Band 105, Nummer 1–2, 1999 Jul-Aug, S. 151–156. PMID 10480370.
  • P. J. Meikle, J. J. Hopwood u. a.: Prevalence of lysosomal storage disorders. In: JAMA. Band 281, Nummer 3, Januar 1999, S. 249–254, doi:10.1001/jama.281.3.249. PMID 9918480.
  • D. Marsden, H. Levy: Newborn screening of lysosomal storage disorders. In: Clinical chemistry. Band 56, Nummer 7, Juli 2010, S. 1071–1079, doi:10.1373/clinchem.2009.141622. PMID 20489136. (Review).
  • M. Spada, S. Pagliardini u. a.: High incidence of later-onset fabry disease revealed by newborn screening. In: American journal of human genetics. Band 79, Nummer 1, Juli 2006, S. 31–40, doi:10.1086/504601. PMID 16773563. PMC 1474133 (freier Volltext).
  • W. L. Hwu, Y. H. Chien u. a.: Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). In: Human mutation. Band 30, Nummer 10, Oktober 2009, S. 1397–1405, doi:10.1002/humu.21074. PMID 19621417. PMC 2769558 (freier Volltext).
  • D. P. Germain: Fabry disease. In: Orphanet Journal of Rare Diseases. Band 5, 2010, S. 30, doi:10.1186/1750-1172-5-30. PMID 21092187. PMC 3009617 (freier Volltext). (Review im Open Access).
  • K. F. Gold, G. M. Pastores u. a.: Quality of life of patients with Fabry disease. In: Qual Life Res. Band 11, Nummer 4, Juni 2002, S. 317–327. PMID 12086117.
  • H. Y. Lin, K. W. Chong u. a.: High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. In: Circulation. Cardiovascular genetics. Band 2, Nummer 5, Oktober 2009, S. 450–456, doi:10.1161/CIRCGENETICS.109.862920. PMID 20031620.
  • P. Gaspar, J. Herrera u. a.: Frequency of Fabry disease in male and female haemodialysis patients in Spain. In: BMC medical genetics. Band 11, 2010, S. 19, doi:10.1186/1471-2350-11-19. PMID 20122163. PMC 2837018 (freier Volltext).
  • A. P. Burlina, K. B. Sims u. a.: Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. In: BMC neurology. Band 11, 2011, S. 61, doi:10.1186/1471-2377-11-61. PMID 21619592. PMC 3126707 (freier Volltext).
  • L. L. Pinto, T. A. Vieira u. a.: Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review. In: Orphanet Journal of Rare Diseases. Band 5, 2010, S. 14, doi:10.1186/1750-1172-5-14. PMID 20509947. PMC 2889886 (freier Volltext). (Review im Open Access)
  • D. P. Germain, K. Benistan, L. Angelova: X-linked inheritance and its implication in the diagnosis and management of female patients in Fabry disease. In: La Revue de médecine interne. Band 31, Suppl 2, Dezember 2010, S. S209–S213, doi:10.1016/S0248-8663(10)70013-8. PMID 21211665.
  • W. B. Dobyns, A. Filauro u. a.: Inheritance of most X-linked traits is not dominant or recessive, just X-linked. In: American journal of medical genetics. Part A. Band 129A, Nummer 2, August 2004, S. 136–143, doi:10.1002/ajmg.a.30123. PMID 15316978.
  • W. B. Dobyns: The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. In: Acta paediatrica. Band 95, Nummer 451, April 2006, S. 11–15, doi:10.1111/j.1651-2227.2006.tb02383.x. PMID 16720459.
  • B. R. Migeon: X inactivation, female mosaicism, and sex differences in renal diseases. In: JASN. Band 19, Nummer 11, November 2008, S. 2052–2059, doi:10.1681/ASN.2008020198. PMID 18448583. (Review).
  • M. Kobayashi, T. Ohashi u. a.: Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease. In: Journal of inherited metabolic disease. [elektronische Veröffentlichung vor dem Druck] Januar 2008, doi:10.1007/s10545-007-0740-6. PMID 18202903.
  • I. Redonnet-Vernhet, J. K. Ploos van Amstel u. a.: Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene. In: Journal of medical genetics. Band 33, Nummer 8, August 1996, S. 682–688. PMID 8863162. PMC 1050704 (freier Volltext).
  • E. M. Maier, S. Osterrieder u. a.: Disease manifestations and X inactivation in heterozygous females with Fabry disease. In: Acta paediatrica. Band 95, Nummer 451, April 2006, S. 30–38, doi:10.1111/j.1651-2227.2006.tb02386.x. PMID 16720462.
  • A. Gal, E. Schäfer, I. Rohard: The genetic basis of Fabry disease. In: A. Mehta, M. Beck, G. Sunder-Plassmann (Hrsg.): Fabry Disease: Perspectives from 5 Years of FOS. Kapitel 33, Oxford PharmaGenesis, 2006, ISBN 1-903539-03-X. PMID 21290673
  • M. D. Sanchez-Niño, A. B. Sanz u. a.: Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy. In: Nephrology, dialysis, transplantation. Band 26, Nummer 6, Juni 2011, S. 1797–1802, doi:10.1093/ndt/gfq306. PMID 20504837.
  • A. H. Futerman, G. van Meer: The cell biology of lysosomal storage disorders. In: Nature Reviews Molecular Cell Biology. Band 5, Nummer 7, Juli 2004, S. 554–565, doi:10.1038/nrm1423. PMID 15232573. (Review).
  • M. Fuller: Sphingolipids: the nexus between Gaucher disease and insulin resistance. In: Lipids in health and disease. Band 9, 2010, S. 113, doi:10.1186/1476-511X-9-113. PMID 20937139. PMC 2964722 (freier Volltext). (Review im Open Access).
  • A. C. Vedder, G. E. Linthorst u. a.: Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. In: PloS one. Band 2, Nummer 7, 2007, S. e598, doi:10.1371/journal.pone.0000598. PMID 17622343. PMC 1913555 (freier Volltext). (Open Access)
  • K. D. MacDermot, A. Holmes, A. H. Miners: Natural history of Fabry disease in affected males and obligate carrier females. In: Journal of inherited metabolic disease. Band 24 Suppl 2, 2001, S. 13–14. PMID 11758673.
  • C. Whybra, C. Kampmann u. a.: Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. In: Journal of inherited metabolic disease. Band 24, Nummer 7, Dezember 2001, S. 715–724. PMID 11804208.
  • P. B. Deegan, A. F. Baehner u. a.: Natural history of Fabry disease in females in the Fabry Outcome Survey. In: Journal of medical genetics. Band 43, Nummer 4, April 2006, S. 347–352, doi:10.1136/jmg.2005.036327. PMID 16227523. PMC 2563231 (freier Volltext).
  • S. Gupta, M. Ries u. a.: The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. In: Medicine. Band 84, Nummer 5, September 2005, S. 261–268. PMID 16148726.
  • A. C. Vedder, G. E. Linthorst u. a.: The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. In: Journal of inherited metabolic disease. Band 30, Nummer 1, Februar 2007, S. 68–78, doi:10.1007/s10545-006-0484-8. PMID 17206462.
  • A. C. Vedder, A. Strijland u. a.: Manifestations of Fabry disease in placental tissue. In: Journal of inherited metabolic disease. Band 29, Nummer 1, Februar 2006, S. 106–111, doi:10.1007/s10545-006-0196-0. PMID 16601876.
  • E. Young, K. Mills u. a.: Is globotriaosylceramide a useful biomarker in Fabry disease? In: Acta paediatrica. Band 94, Nummer 447, März 2005, S. 51–54. PMID 15895713.
  • S. Bekri, O. Lidove u. a.: The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature. In: Cardiovascular & hematological agents in medicinal chemistry. Band 4, Nummer 4, Oktober 2006, S. 289–297. PMID 17073606. (Review).
  • J. M. Aerts, J. E. Groener u. a.: Elevated globotriaosylsphingosine is a hallmark of Fabry disease. In: PNAS. Band 105, Nummer 8, Februar 2008, S. 2812–2817, doi:10.1073/pnas.0712309105. PMID 18287059. PMC 2268542 (freier Volltext).
  • A. H. Miners, A. Holmes u. a.: Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention. In: Quality of life research. Band 11, Nummer 2, März 2002, S. 127–133. PMID 12018736.
  • D. A. Laney, D. J. Gruskin u. a.: Social-adaptive and psychological functioning of patients affected by Fabry disease. In: Journal of inherited metabolic disease. Januar 2010, doi:10.1007/s10545-009-9025-6. PMID 20087663.
  • A. J. Grau, M. Schwaninger u. a.: Eine lysosomale Stoffwechselerkrankung mit neuen therapeutischen Möglichkeiten. In: Der Nervenarzt. Band 74, Nummer 6, Juni 2003, S. 489–496, doi:10.1007/s00115-003-1513-6. PMID 12799787.
  • J. Sadek, R. Shellhaas u. a.: Psychiatric findings in four female carriers of Fabry disease. In: Psychiatric genetics. Band 14, Nummer 4, Dezember 2004, S. 199–201. PMID 15564893.
  • A. L. Cole, P. J. Lee u. a.: Depression in adults with Fabry disease: a common and under-diagnosed problem. In: Journal of inherited metabolic disease. Band 30, Nummer 6, November 2007, S. 943–951, doi:10.1007/s10545-007-0708-6. PMID 17994284.
  • P. Segal, Y. Kohn u. a.: Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study. In: Journal of inherited metabolic disease. Band 33, Nummer 4, August 2010, S. 429–436, doi:10.1007/s10545-010-9133-3. PMID 20549363.
  • T. W. Crosbie, W. Packman, S. Packman: Psychological aspects of patients with Fabry disease. In: Journal of inherited metabolic disease. Band 32, Nummer 6, Dezember 2009, S. 745–753, doi:10.1007/s10545-009-1254-1. PMID 19924564.
  • W. J. Cable, E. H. Kolodny, R. D. Adams: Fabry disease: impaired autonomic function. In: Neurology. Band 32, Nummer 5, Mai 1982, S. 498–502. PMID 6803189.
  • M. Dütsch, H. Marthol u. a.: Small fiber dysfunction predominates in Fabry neuropathy. In: Journal of clinical neurophysiology. Band 19, Nummer 6, Dezember 2002, S. 575–586. PMID 12488789.
  • B. Hoffmann, M. Beck u. a.: Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy–a retrospective analysis from the Fabry Outcome Survey. In: The Clinical journal of pain. Band 23, Nummer 6, Jul-Aug 2007, S. 535–542, doi:10.1097/AJP.0b013e318074c986. PMID 17575495.
  • R. J. Hopkin, J. Bissler u. a.: Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. In: Pediatric research. Band 64, Nummer 5, November 2008, S. 550–555, doi:10.1203/PDR.0b013e318183f132. PMID 18596579.
  • J. Charrow: A 14-year-old boy with pain in hands and feet. In: Pediatric annals. Band 38, Nummer 4, April 2009, S. 190, 192. PMID 19455947.
  • M. J. Hilz, B. Stemper, E. H. Kolodny: Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients. In: Pain. Band 84, Nummer 2–3, Februar 2000, S. 361–365. PMID 10666542.
  • K. J. Sheth, S. L. Werlin u. a.: Gastrointestinal structure and function in Fabry’s disease. In: The American Journal of Gastroenterology. Band 76, Nummer 3, September 1981, S. 246–251. PMID 6274188.
  • B. Hoffmann, M. Schwarz u. a.: Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. In: Clinical gastroenterology and hepatology. Band 5, Nummer 12, Dezember 2007, S. 1447–1453, doi:10.1016/j.cgh.2007.08.012. PMID 17919989.
  • W. H. Kang, S. I. Chun, S. Lee: Generalized anhidrosis associated with Fabry’s disease. In: Journal of the American Academy of Dermatology. Band 17, Nummer 5 Pt 2, November 1987, S. 883–887. PMID 3119682.
  • C. H. Orteu, T. Jansen u. a.: Fabry disease and the skin: data from FOS, the Fabry outcome survey. In: The British journal of dermatology. Band 157, Nummer 2, August 2007, S. 331–337, doi:10.1111/j.1365-2133.2007.08002.x. PMID 17573884.
  • S. N. Gupta, M. Ries u. a.: Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical study. In: BMC neurology. Band 8, 2008, S. 41, doi:10.1186/1471-2377-8-41. PMID 18990229. PMC 2585087 (freier Volltext). (Open Access)
  • E. D. Shelley, W. B. Shelley, T. W. Kurczynski: Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease. In: Pediatric dermatology. Band 12, Nummer 3, September 1995, S. 215–219. PMID 7501549.
  • C. M. Eng, D. P. Germain u. a.: Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. In: Genetics in medicine. Band 8, Nummer 9, September 2006, S. 539–548, doi:10.1097/01.gim.0000237866.70357.c6. PMID 16980809. (Review).
  • M. Möhrenschlager, M. Braun-Falco u. a.: Fabry disease: recognition and management of cutaneous manifestations. In: American journal of clinical dermatology. Band 4, Nummer 3, 2003, S. 189–196. PMID 12627994. (Review).
  • D. Wattanasirichaigoon, J. Svasti u. a.: Clinical and molecular characterization of an extended family with Fabry disease. In: Journal of the Medical Association of Thailand. Band 89, Nummer 9, September 2006, S. 1528–1535. PMID 17100396.
  • C. Orssaud, J. Dufier, D. Germain: Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients. In: Ophthalmic genetics. Band 24, Nummer 3, September 2003, S. 129–139. PMID 12868031.
  • T. T. Nguyen, T. Gin u. a.: Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment Centre. In: Clinical & experimental ophthalmology. Band 33, Nummer 2, April 2005, S. 164–168, doi:10.1111/j.1442-9071.2005.00990.x. PMID 15807825.
  • A. Sodi, A. S. Ioannidis u. a.: Ocular manifestations of Fabry’s disease: data from the Fabry Outcome Survey. In: The British journal of ophthalmology. Band 91, Nummer 2, Februar 2007, S. 210–214, doi:10.1136/bjo.2006.100602. PMID 16973664. PMC 1857640 (freier Volltext).
  • K. Falke, A. Büttner u. a.: The microstructure of cornea verticillata in Fabry disease and amiodarone-induced keratopathy: a confocal laser-scanning microscopy study. In: Graefe’s archive for clinical and experimental ophthalmology. Band 247, Nummer 4, April 2009, S. 523–534, doi:10.1007/s00417-008-0962-9. PMID 18931853.
  • A. Sessa, M. Meroni u. a.: Renal pathological changes in Fabry disease. In: Journal of inherited metabolic disease. Band 24 Suppl 2, 2001, S. 66–70. PMID 11758681. (Review).
  • A. Sessa, M. Meroni u. a.: Evolution of renal pathology in Fabry disease. In: Acta paediatrica. Band 92, Nummer 443, Dezember 2003, S. 6–8. PMID 14989458.
  • A. B. Fogo, L. Bostad u. a.: Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN). In: Nephrology, dialysis, transplantation. Band 25, Nummer 7, Juli 2010, S. 2168–2177, doi:10.1093/ndt/gfp528. PMID 19833663. PMC 2902894 (freier Volltext).
  • M. C. Gubler, G. Lenoir u. a.: Early renal changes in hemizygous and heterozygous patients with Fabry’s disease. In: Kidney International. Band 13, Nummer 3, März 1978, S. 223–235. PMID 418264.
  • J. Alroy, S. Sabnis, J. B. Kopp: Renal pathology in Fabry disease. In: JASN. Band 13 Suppl 2, Juni 2002, S. S134–S138. PMID 12068025. (Review).
  • T. Thomaidis, M. Relle u. a.: Wirkung der Enzymersatztherapie (ERT) auf die Nierenfunktion von Patienten mit Morbus Fabry. In: Medizinische Klinik. Band 104, Nummer 9, September 2009, S. 699–703, doi:10.1007/s00063-009-1152-1. PMID 19779674. (Review).
  • A. Ortiz, J. P. Oliveira u. a.: Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. In: Nephrology, dialysis, transplantation. Band 23, Nummer 5, Mai 2008, S. 1600–1607, doi:10.1093/ndt/gfm848. PMID 18175781.
  • M. H. Branton, R. Schiffmann u. a.: Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. In: Medicine. Band 81, Nummer 2, März 2002, S. 122–138. PMID 11889412.
  • R. Schiffmann, D. G. Warnock u. a.: Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. In: Nephrology, dialysis, transplantation. Band 24, Nummer 7, Juli 2009, S. 2102–2111, doi:10.1093/ndt/gfp031. PMID 19218538. PMC 2698092 (freier Volltext).
  • A. Linhart, T. Palecek u. a.: New insights in cardiac structural changes in patients with Fabry’s disease. In: American Heart Journal. Band 139, Nummer 6, Juni 2000, S. 1101–1108, doi:10.1067/mhj.2000.105105. PMID 10827394.
  • C. Kampmann, F. Baehner u. a.: Cardiac manifestations of Anderson-Fabry disease in heterozygous females. In: Journal of the American College of Cardiology. Band 40, Nummer 9, November 2002, S. 1668–1674. PMID 12427421.
  • M. Senechal, D. P. Germain: Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patients. In: Clinical genetics. Band 63, Nummer 1, Januar 2003, S. 46–52. PMID 12519371.
  • J. S. Shah, D. A. Hughes u. a.: Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. In: The American journal of cardiology. Band 96, Nummer 6, September 2005, S. 842–846, doi:10.1016/j.amjcard.2005.05.033. PMID 16169374.
  • P. M. Elliott, H. Kindler u. a.: Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A. In: Heart. Band 92, Nummer 3, März 2006, S. 357–360, doi:10.1136/hrt.2004.054015. PMID 16085718. PMC 1860797 (freier Volltext).
  • J. C. Moon, M. Sheppard u. a.: The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease. In: J Cardiovasc Magn Reson. Band 8, Nummer 3, 2006, S. 479–482. PMID 16755835.
  • H. Hasegawa, H. Takano u. a.: Images in cardiovascular medicine. Transition from left ventricular hypertrophy to massive fibrosis in the cardiac variant of Fabry disease. In: Circulation. Band 113, Nummer 16, April 2006, S. e720–e721, doi:10.1161/CIRCULATIONAHA.105.584292. PMID 16636179.
  • F. Weidemann, F. Breunig u. a.: The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. In: European heart journal. Band 26, Nummer 12, Juni 2005, S. 1221–1227, doi:10.1093/eurheartj/ehi143. PMID 15728649.
  • A. Linhart, C. Kampmann u. a.: Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. In: European heart journal. Band 28, Nummer 10, Mai 2007, S. 1228–1235, doi:10.1093/eurheartj/ehm153. PMID 17483538.
  • C. Kampmann, A. Linhart u. a.: Onset and progression of the Anderson-Fabry disease related cardiomyopathy. In: International journal of cardiology. Band 130, Nummer 3, November 2008, S. 367–373, doi:10.1016/j.ijcard.2008.03.007. PMID 18572264.
  • T. Takenaka, H. Teraguchi u. a.: Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study. In: Journal of cardiology. Band 51, Nummer 1, Februar 2008, S. 50–59, doi:10.1016/j.jjcc.2007.12.001. PMID 18522775.
  • M. Pieroni, C. Chimenti u. a.: Early detection of Fabry cardiomyopathy by tissue Doppler imaging. In: Circulation. Band 107, Nummer 15, April 2003, S. 1978–1984, doi:10.1161/01.CIR.0000061952.27445.A0. PMID 12668521.
  • F. Weidemann, F. Breunig u. a.: Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. In: Circulation. Band 108, Nummer 11, September 2003, S. 1299–1301, doi:10.1161/01.CIR.0000091253.71282.04. PMID 12952834.
  • M. Pieroni, C. Chimenti u. a.: Tissue Doppler imaging in Fabry disease. In: Current opinion in cardiology. Band 19, Nummer 5, September 2004, S. 452–457. PMID 15316452. (Review).
  • T. Palecek, G. Dostalova u. a.: Right ventricular involvement in Fabry disease. In: Journal of the American Society of Echocardiography. Band 21, Nummer 11, November 2008, S. 1265–1268, doi:10.1016/j.echo.2008.09.002. PMID 18835697.
  • M. Niemann, F. Breunig u. a.: The right ventricle in Fabry disease: natural history and impact of enzyme replacement therapy. In: Heart. Band 96, Nummer 23, Dezember 2010, S. 1915–1919, doi:10.1136/hrt.2010.204586. PMID 20965976.
  • C. Kampmann, F. A. Baehner u. a.: The right ventricle in Fabry disease. In: Acta paediatrica. Band 94, Nummer 447, März 2005, S. 15–18. PMID 15895706.
  • A. Fellgiebel, M. J. Müller, L. Ginsberg: CNS manifestations of Fabry’s disease. In: Lancet neurology. Band 5, Nummer 9, September 2006, S. 791–795, doi:10.1016/S1474-4422(06)70548-8. PMID 16914407.
  • K. Sims, J. Politei u. a.: Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. In: Stroke. Band 40, Nummer 3, März 2009, S. 788–794, doi:10.1161/STROKEAHA.108.526293. PMID 19150871.
  • P. Mitsias, S. R. Levine: Cerebrovascular complications of Fabry’s disease. In: Annals of neurology. Band 40, Nummer 1, Juli 1996, S. 8–17, doi:10.1002/ana.410400105. PMID 8687196.
  • M. F. Mendez, T. M. Stanley u. a.: The vascular dementia of Fabry’s disease. In: Dementia and geriatric cognitive disorders. Band 8, Nummer 4, 1997 Jul-Aug, S. 252–257. PMID 9213072.
  • R. Okeda, M. Nisihara: An autopsy case of Fabry disease with neuropathological investigation of the pathogenesis of associated dementia. In: Neuropathology. Band 28, Nummer 5, Oktober 2008, S. 532–540, doi:10.1111/j.1440-1789.2008.00883.x. PMID 18410273.
  • A. Fellgiebel, I. Keller u. a.: Diagnostic utility of different MRI and MR angiography measures in Fabry disease. In: Neurology. Band 72, Nummer 1, Januar 2009, S. 63–68, doi:10.1212/01.wnl.0000338566.54190.8a. PMID 19122032.
  • T. DeGraba, S. Azhar u. a.: Profile of endothelial and leukocyte activation in Fabry patients. In: Annals of neurology. Band 47, Nummer 2, Februar 2000, S. 229–233. PMID 10665494.
  • D. F. Moore, L. T. Scott u. a.: Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. In: Circulation. Band 104, Nummer 13, September 2001, S. 1506–1512. PMID 11571244.
  • D. F. Moore, G. Altarescu u. a.: Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. In: Stroke; a journal of cerebral circulation. Band 33, Nummer 2, Februar 2002, S. 525–531. PMID 11823664.
  • R. Schiffmann: Fabry disease. In: Pharmacology & Therapeutics. Band 122, Nummer 1, April 2009, S. 65–77, doi:10.1016/j.pharmthera.2009.01.003. PMID 19318041. (Review).
  • C. R. Kaneski, D. F. Moore u. a.: Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease. In: Neurology. Band 67, Nummer 11, Dezember 2006, S. 2045–2047, doi:10.1212/01.wnl.0000247278.88077.09. PMID 17159117. PMC 1950664 (freier Volltext).
  • A. Palla, S. Hegemann u. a.: Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy. In: Journal of neurology. Band 254, Nummer 10, Oktober 2007, S. 1433–1442, doi:10.1007/s00415-007-0575-y. PMID 17934877.
  • Y. Sakurai, H. Kojima u. a.: The hearing status in 12 female and 15 male Japanese Fabry patients. In: Auris, nasus, larynx. Band 36, Nummer 6, Dezember 2009, S. 627–632, doi:10.1016/j.anl.2009.01.001. PMID 19261412.
  • D. P. Germain, P. Avan u. a.: Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. In: BMC medical genetics. Band 3, Oktober 2002, S. 10. PMID 12377100. PMC 134464 (freier Volltext).
  • G. Conti, B. Sergi: Auditory and vestibular findings in Fabry disease: a study of hemizygous males and heterozygous females. In: Acta paediatrica. Band 92, Nummer 443, Dezember 2003, S. 33–37. PMID 14989464.
  • D. M. Rosenberg, V. J. Ferrans u. a.: Chronic airflow obstruction in Fabry’s disease. In: The American journal of medicine. Band 68, Nummer 6, Juni 1980, S. 898–905. PMID 6247911.
  • L. K. Brown, A. Miller u. a.: Pulmonary involvement in Fabry disease. In: American journal of respiratory and critical care medicine. Band 155, Nummer 3, März 1997, S. 1004–1010. PMID 9116979.
  • S. Magage, J. C. Lubanda u. a.: Atteinte respiratoire de la maladie de Fabry. In: Médecine sciences. Band 21, Nummer 11 Suppl, Dezember 2005, S. 37–39, doi:10.1051/medsci/20052111s37. PMID 16324666.
  • S. Magage, J. C. Lubanda u. a.: Natural history of the respiratory involvement in Anderson-Fabry disease. In: Journal of inherited metabolic disease. Band 30, Nummer 5, Oktober 2007, S. 790–799, doi:10.1007/s10545-007-0616-9. PMID 17619837.
  • D. P. Germain, K. Benistan u. a.: Atteinte osseuse de la maladie de Fabry. In: Médecine sciences. Band 21, Nummer 11 Suppl, Dezember 2005, S. 43–44, doi:10.1051/medsci/20052111s43. PMID 16324668.
  • D. P. Germain, K. Benistan u. a.: Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease. In: Clinical genetics. Band 68, Nummer 1, Juli 2005, S. 93–95, doi:10.1111/j.1399-0004.2005.00457.x. PMID 15952993.
  • H. Mersebach, J. O. Johansson u. a.: Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density. In: Genetics in medicine. Band 9, Nummer 12, Dezember 2007, S. 812–818, doi:10.1097/GIM.0b013e31815cb197. PMID 18091430.
  • C. L. Marchesoni, N. Roa u. a.: Misdiagnosis in Fabry disease. In: The Journal of pediatrics. Band 156, Nummer 5, Mai 2010, S. 828–831, doi:10.1016/j.jpeds.2010.02.012. PMID 20385321.
  • A. Mehta, R. Ricci u. a.: Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. In: European journal of clinical investigation. Band 34, Nummer 3, März 2004, S. 236–242, doi:10.1111/j.1365-2362.2004.01309.x. PMID 15025684.
  • K. D. MacDermot, A. Holmes, A. H. Miners: Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. In: Journal of medical genetics. Band 38, Nummer 11, November 2001, S. 750–760. PMID 11694547. PMC 173476 (freier Volltext).
  • J. S. Mayes, J. B. Scheerer u. a.: Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry’s disease. In: Clinica chimica acta. Band 112, Nummer 2, Mai 1981, S. 247–251. PMID 6263521.
  • B. Hoffmann, H. Georg Koch u. a.: Deficient alpha-galactosidase A activity in plasma but no Fabry disease–a pitfall in diagnosis. In: Clinical chemistry and laboratory medicine. Band 43, Nummer 11, 2005, S. 1276–1277, doi:10.1515/CCLM.2005.219. PMID 16232095.
  • G. E. Linthorst, A. C. Vedder u. a.: Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. In: Clinica chimica acta. Band 353, Nummer 1–2, März 2005, S. 201–203, doi:10.1016/j.cccn.2004.10.019. PMID 15698608.
  • S. Roy, K. Gaudin u. a.: Optimisation of the separation of four major neutral glycosphingolipids: application to a rapid and simple detection of urinary globotriaosylceramide in Fabry disease. In: Journal of chromatography B. Band 805, Nummer 2, Juni 2004, S. 331–337, doi:10.1016/j.jchromb.2004.03.037. PMID 15135109.
  • C. Auray-Blais, D. Cyr u. a.: Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease. In: Journal of inherited metabolic disease. Band 30, Nummer 1, Februar 2007, S. 106, doi:10.1007/s10545-006-0444-3. PMID 17171433.
  • C. Auray-Blais, D. Cyr u. a.: Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. In: Molecular Genetics and Metabolism. Band 93, Nummer 3, März 2008, S. 331–340, doi:10.1016/j.ymgme.2007.10.001. PMID 18023222.
  • D. Touboul, S. Roy u. a.: Fast fingerprinting by MALDI-TOF mass spectrometry of urinary sediment glycosphingolipids in Fabry disease. In: Analytical and bioanalytical chemistry. Band 382, Nummer 5, Juli 2005, S. 1209–1216, doi:10.1007/s00216-005-3239-8. PMID 15959771.
  • K. Mills, P. Morris u. a.: Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. In: Journal of inherited metabolic disease. Band 28, Nummer 1, 2005, S. 35–48, doi:10.1007/s10545-005-5263-4. PMID 15702404.
  • R. J. Desnick: Prenatal diagnosis of Fabry disease. In: Prenatal diagnosis. Band 27, Nummer 8, August 2007, S. 693–694, doi:10.1002/pd.1767. PMID 17533632. (Review).
  • T. F. Metz, T. P. Mechtler u. a.: Simplified newborn screening protocol for lysosomal storage disorders. In: Clinical chemistry. Band 57, Nummer 9, September 2011, S. 1286–1294, doi:10.1373/clinchem.2011.164640. PMID 21771947.
  • K. Nakamura, K. Hattori, F. Endo: Newborn screening for lysosomal storage disorders. In: American journal of medical genetics. Band 157, Nummer 1, Februar 2011, S. 63–71, doi:10.1002/ajmg.c.30291. PMID 21312327. (Review).
  • G. M. Pastores: Miglustat: Substrate Reduction Therapy for Lysosomal Storage Disorders Associated with Primary Central Nervous System Involvement. (Memento vom 16. Juni 2010 im Internet Archive) (PDF; 75 kB). In: Recent Patents on CNS Drug Discovery. 1, 2006, S. 77–82. PMID 18221193
  • C. A. Black: March on, not in. In: Nature medicine. Band 17, Nummer 5, Mai 2011, S. 515, doi:10.1038/nm0511-515. PMID 21546944.
  • M. Beck: Agalsidase alfa – a preparation for enzyme replacement therapy in Anderson-Fabry disease. In: Expert opinion on investigational drugs. Band 11, Nummer 6, Juni 2002, S. 851–858, doi:10.1517/13543784.11.6.851. PMID 12036428. (Review).
  • K. Lee, X. Jin u. a.: A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. In: Glycobiology. Band 13, Nummer 4, April 2003, S. 305–313, doi:10.1093/glycob/cwg034. PMID 12626384.
  • W. R. Wilcox, M. Banikazemi u. a.: Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. In: American journal of human genetics. Band 75, Nummer 1, Juli 2004, S. 65–74, doi:10.1086/422366. PMID 15154115. PMC 1182009 (freier Volltext).
  • B. L. Thurberg, H. Rennke u. a.: Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. In: Kidney International. Band 62, Nummer 6, Dezember 2002, S. 1933–1946, doi:10.1046/j.1523-1755.2002.00675.x. PMID 12427118.
  • J. Marshall, K. M. Ashe u. a.: Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease. In: PloS one. Band 5, Nummer 11, 2010, S. e15033, doi:10.1371/journal.pone.0015033. PMID 21124789. PMC 2991350 (freier Volltext). (Open Access)
  • M. Beck: Agalsidase alfa for the treatment of Fabry disease: new data on clinical efficacy and safety. In: Expert opinion on biological therapy. Band 9, Nummer 2, Februar 2009, S. 255–261, doi:10.1517/14712590802658428. PMID 19236256. (Review).
  • C. M. Eng, N. Guffon u. a.: Safety and efficacy of recombinant human alpha-galactosidase A–replacement therapy in Fabry’s disease. In: The New England Journal of Medicine. Band 345, Nummer 1, Juli 2001, S. 9–16, doi:10.1056/NEJM200107053450102. PMID 11439963.
  • G. M. Keating, D. Simpson: Spotlight on agalsidase beta in Fabry disease. In: BioDrugs. Band 21, Nummer 4, 2007, S. 269–271. PMID 17628124. (Review).
  • D. P. Germain, S. Waldek u. a.: Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. In: JASN. Band 18, Nummer 5, Mai 2007, S. 1547–1557, doi:10.1681/ASN.2006080816. PMID 17409312.
  • Y. Tajima, I. Kawashima u. a.: Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease. In: American journal of human genetics. Band 85, Nummer 5, November 2009, S. 569–580, doi:10.1016/j.ajhg.2009.09.016. PMID 19853240. PMC 2775840 (freier Volltext).
  • T. Ohashi, M. Sakuma u. a.: Influence of antibody formation on reduction of globotriaosylceramide (GL-3) in urine from Fabry patients during agalsidase beta therapy. In: Molecular Genetics and Metabolism. Band 92, Nummer 3, November 2007, S. 271–273, doi:10.1016/j.ymgme.2007.06.013. PMID 17689998.
  • T. Ohashi, S. Iizuka u. a.: Reduced alpha-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease. In: Molecular Genetics and Metabolism. Band 94, Nummer 3, Juli 2008, S. 313–318, doi:10.1016/j.ymgme.2008.03.008. PMID 18456533.
  • C. A. Black: To march in or not to march in. In: Nature medicine. Band 17, Nummer 8, 2011, S. 921, doi:10.1038/nm.2440. PMID 21818082.
  • E. Dolgin: NIH faces marching orders on orphan drug shortage. In: Nature medicine. Band 17, Nummer 5, Mai 2011, S. 522, doi:10.1038/nm0511-522b. PMID 21546953.
  • B. Hoffmann, E. Mayatepek: Fabry disease-often seen, rarely diagnosed. In: Deutsches Ärzteblatt international. Band 106, Nummer 26, Juni 2009, S. 440–447, doi:10.3238/arztebl.2009.0440. PMID 19623315. PMC 270439 (freier Volltext). (Review).
  • S. Ishii, H. H. Chang u. a.: Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin. In: The Biochemical journal. Band 406, Nummer 2, September 2007, S. 285–295, doi:10.1042/BJ20070479. PMID 17555407. PMC 1948963 (freier Volltext).
  • S. Ishii, H. H. Chang u. a.: Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease. In: The Journal of pharmacology and experimental therapeutics. Band 328, Nummer 3, März 2009, S. 723–731, doi:10.1124/jpet.108.149054. PMID 19106170.
  • R. Hamanaka, T. Shinohara u. a.: Rescue of mutant alpha-galactosidase A in the endoplasmic reticulum by 1-deoxygalactonojirimycin leads to trafficking to lysosomes. In: Biochimica et biophysica acta. Band 1782, Nummer 6, Juni 2008, S. 408–413, doi:10.1016/j.bbadis.2008.03.001. PMID 18381081.
  • G. H. Yam, N. Bosshard u. a.: Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants. In: American journal of physiology. Band 290, Nummer 4, April 2006, S. C1076–C1082, doi:10.1152/ajpcell.00426.2005. PMID 16531566.
  • N. Asano, S. Ishii u. a.: In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives. In: European Journal of Biochemistry. Band 267, Nummer 13, Juli 2000, S. 4179–4186. PMID 10866822.
  • G. Andreotti, M. R. Guarracino u. a.: Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study. In: Orphanet Journal of Rare Diseases. Band 5, 2010, S. 36, doi:10.1186/1750-1172-5-36. PMID 21138548. PMC 3016270 (freier Volltext). (Open Access)
  • R. Khanna, R. Soska u. a.: The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. In: Molecular therapy. Band 18, Nummer 1, Januar 2010, S. 23–33, doi:10.1038/mt.2009.220. PMID 19773742. PMC 2839206 (freier Volltext).
  • S. H. Shin, S. Kluepfel-Stahl u. a.: Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone. In: Pharmacogenetics and genomics. Band 18, Nummer 9, September 2008, S. 773–780, doi:10.1097/FPC.0b013e32830500f4. PMID 18698230. PMC 2657085 (freier Volltext).
  • T. Watt, A. P. Burlina u. a.: Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry. In: Genetics in medicine. Band 12, Nummer 11, November 2010, S. 703–712, doi:10.1097/GIM.0b013e3181f13a4a. PMID 20885332.
  • M. R. Filling-Katz, H. F. Merrick u. a.: Carbamazepine in Fabry’s disease: effective analgesia with dose-dependent exacerbation of autonomic dysfunction. In: Neurology. Band 39, Nummer 4, April 1989, S. 598–600. PMID 2494569.
  • R. Baron, A. Binder, G. Wasner: Neuropathic pain: diagnosis, pathophysiological mechanisms, and treatment. In: Lancet neurology. Band 9, Nummer 8, August 2010, S. 807–819, doi:10.1016/S1474-4422(10)70143-5. PMID 20650402. (Review).
  • G. Cruccu, C. Sommer u. a.: EFNS guidelines on neuropathic pain assessment: revised 2009. In: European journal of neurology. Band 17, Nummer 8, August 2010, S. 1010–1018, doi:10.1111/j.1468-1331.2010.02969.x. PMID 20298428. (Review).
  • C. E. Argoff, N. W. Barton u. a.: Gastrointestinal symptoms and delayed gastric emptying in Fabry’s disease: response to metoclopramide. In: Nuclear medicine communications. Band 19, Nummer 9, September 1998, S. 887–891. PMID 10581595.
  • H. Tahir, L. L. Jackson, D. G. Warnock: Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. In: JASN. Band 18, Nummer 9, September 2007, S. 2609–2617, doi:10.1681/ASN.2006121400. PMID 17656478.
  • I. B. Tomasic, M. C. Metcalf u. a.: Interconversion of the specificities of human lysosomal enzymes associated with Fabry and Schindler diseases. In: The Journal of biological chemistry. Band 285, Nummer 28, Juli 2010, S. 21560–21566, doi:10.1074/jbc.M110.118588. PMID 20444686. PMC 2898384 (freier Volltext).
  • A. Abe, S. Gregory u. a.: Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation. In: The Journal of clinical investigation. Band 105, Nummer 11, Juni 2000, S. 1563–1571, doi:10.1172/JCI9711. PMID 10841515. PMC 300859 (freier Volltext).
  • T. Heare, N. J. Alp u. a.: Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatment. In: Journal of inherited metabolic disease. Band 30, Nummer 1, Februar 2007, S. 79–87, doi:10.1007/s10545-006-0473-y. PMID 17189993.
  • G. M. Pastores, N. L. Barnett, E. H. Kolodny: An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment. In: Clinical therapeutics. Band 27, Nummer 8, August 2005, S. 1215–1227, doi:10.1016/j.clinthera.2005.08.004. PMID 16199246.
  • C. E. Hollak, D. Hughes u. a.: Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme. In: Pharmacoepidemiology and drug safety. Band 18, Nummer 9, September 2009, S. 770–777, doi:10.1002/pds.1779. PMID 19507165.
  • T. Ohshima, R. Schiffmann u. a.: Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice. In: PNAS. Band 96, Nummer 11, Mai 1999, S. 6423–6427. PMID 10339603. PMC 26897 (freier Volltext).
  • T. Takenaka, G. J. Murray u. a.: Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells. In: PNAS. Band 97, Nummer 13, Juni 2000, S. 7515–7520, doi:10.1073/pnas.120177997. PMID 10840053. PMC 16577 (freier Volltext).
  • T. Yokoi, H. Kobayashi u. a.: Minimum requirement of donor cells to reduce the glycolipid storage following bone marrow transplantation in a murine model of Fabry disease. In: The journal of gene medicine. Band 13, Nummer 5, Mai 2011, S. 262–268, doi:10.1002/jgm.1566. PMID 21520359.
  • J. Park, G. J. Murray u. a.: Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer. In: PNAS. Band 100, Nummer 6, März 2003, S. 3450–3454, doi:10.1073/pnas.0537900100. PMID 12624185. PMC 152313 (freier Volltext).
  • G. Qin, T. Takenaka u. a.: Preselective gene therapy for Fabry disease. In: PNAS. Band 98, Nummer 6, März 2001, S. 3428–3433, doi:10.1073/pnas.061020598. PMID 11248095. PMC 30670 (freier Volltext).
  • Y. A. Ioannou, K. M. Zeidner u. a.: Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. In: American journal of human genetics. Band 68, Nummer 1, Januar 2001, S. 14–25, doi:10.1086/316953. PMID 11115376. PMC 1234907 (freier Volltext).
  • M. E. Haskins, U. Giger, D. F. Patterson: Animal models of lysosomal storage diseases: their development and clinical relevance. In: A. Mehta, M. Beck, G. Sunder-Plassmann (Hrsg.): Fabry Disease: Perspectives from 5 Years of FOS. Kapitel 6, Oxford PharmaGenesis, 2006, ISBN 1-903539-03-X. PMID 21290677
  • K. D. MacDermot, A. Holmes, A. H. Miners: Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. In: Journal of medical genetics. Band 38, Nummer 11, November 2001, S. 769–775. PMID 11732485. PMC 1734754 (freier Volltext).
  • A. Mehta, J. T. Clarke u. a.: Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey. In: Journal of medical genetics. Band 46, Nummer 8, August 2009, S. 548–552, doi:10.1136/jmg.2008.065904. PMID 19473999.
  • H. Fabry: An historical overview of Fabry disease. In: Journal of inherited metabolic disease. Band 24, Suppl 2, 2001, S. 3–7. PMID 11758677.
  • H. J. Wallace: Angiokeratoma corporis diffusum. In: Br J Dermatol. Band 70, 1968, S. 354–360. doi:10.1111/j.1365-2133.1958.tb13796.x PMID 13584689
  • A. W. Pompen, M. Ruiter, H. J. Wyers: Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports. In: Acta medica Scandinavica. Band 128, Nummer 3, Juni 1947, S. 234–255. PMID 18897399.
  • H. Hornbostel, K. Scriba: Zur Diagnostik des Angiokeratoma Fabry mit kardiovasorenalem Symptomenkomplex als Phosphatidspeicherkrankheit durch Probeexcision der Haut. In: Klinische Wochenschrift. Band 31, Nummer 3–4, Januar 1953, S. 68–69. PMID 13062573.
  • J. R. Colley, D. L. Miller u. a.: The renal lesion in angiokeratoma corporis diffusum. In: British medical journal. Band 1, Nummer 5082, Mai 1958, S. 1266–1268. PMID 13536474. PMC 2028866 (freier Volltext).
  • C. C. Sweeley, B. Klionsky: Fabry’s disease. Classification as sphingolipidosis and partial characterization of a novel glycolipid. In: The Journal of biological chemistry. Band 238, September 1963, S. 3148–3150. PMID 14081947.
  • J. M. Opitz, F. C. Stiles u. a.: The Genetics of Angiokeratoma Corporis Diffusum (Fabry’s Disease) and Its Linkage Relations with the Xg Locus. In: American journal of human genetics. Band 17, Nummer 4, Juli 1965, S. 325–342. PMID 17948499. PMC 1932618 (freier Volltext).
  • K. Hashimoto, B. G. Gross, W. F. Lever: Angiokeratoma Corporis Diffusum (Fabry). Histochemical and Electron Microscopic Studies of the Skin. In: The Journal of investigative dermatology. Band 44, Februar 1965, S. 119–128, doi:10.1038/jid.1965.22 PMID 14258908.
  • R. O. Brady, A. E. Gal u. a.: Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. In: The New England journal of medicine. Band 276, Nummer 21, Mai 1967, S. 1163–1167, doi:10.1056/NEJM196705252762101. PMID 6023233.
  • J. A. Kint: Fabry’s disease: alpha-galactosidase deficiency. In: Science. Band 167, Nummer 922, Februar 1970, S. 1268–1269. PMID 5411915.
  • J. W. Kusiak, J. M. Quirk, R. O. Brady: Purification and properties of the two major isozymes of alpha-galactosidase from human placenta. In: The Journal of biological chemistry. Band 253, Nummer 1, Januar 1978, S. 184–190. PMID 201618.
  • R. J. Desnick, K. Y. Allen u. a.: Fabry’s disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. In: The Journal of laboratory and clinical medicine. Band 81, Nummer 2, Februar 1973, S. 157–171. PMID 4683418.
  • R. O. Brady, J. F. Tallman u. a.: Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry’s disease. In: The New England journal of medicine. Band 289, Nummer 1, Juli 1973, S. 9–14, doi:10.1056/NEJM197307052890103. PMID 4196713.
  • R. J. Desnick, K. J. Dean u. a.: Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes. In: PNAS. Band 76, Nummer 10, Oktober 1979, S. 5326–5330. PMID 228284. PMC 413135 (freier Volltext).
  • C. A. Mapes, R. L. Anderson u. a.: Enzyme replacement in Fabry’s disease, an inborn error of metabolism. In: Science. Band 169, Nummer 949, September 1970, S. 987–989. PMID 4914726.
  • T. Ohshima, G. J. Murray u. a.: alpha-Galactosidase A deficient mice: a model of Fabry disease. In: PNAS. Band 94, Nummer 6, März 1997, S. 2540–2544. PMID 9122231. PMC 20124 (freier Volltext).
  • D. F. Bishop, D. H. Calhoun u. a.: Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. In: PNAS. Band 83, Nummer 13, Juli 1986, S. 4859–4863. PMID 3014515. PMC 323842 (freier Volltext).
  • R. Kornreich, R. J. Desnick, D. F. Bishop: Nucleotide sequence of the human alpha-galactosidase A gene. In: Nucleic Acids Research. Band 17, Nummer 8, April 1989, S. 3301–3302. PMID 2542896. PMC 317741 (freier Volltext).
  • D. F. Bishop, R. Kornreich, R. J. Desnick: Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region. In: PNAS. Band 85, Nummer 11, Juni 1988, S. 3903–3907. PMID 2836863. PMC 280328 (freier Volltext).
  • R. Schiffmann, G. J. Murray u. a.: Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. In: PNAS. Band 97, Nummer 1, Januar 2000, S. 365–370. PMID 10618424. PMC 26669 (freier Volltext).

ott.nih.gov

omim.org

oxfordjournals.org

ndt.oxfordjournals.org

eurheartj.oxfordjournals.org

pharmatimes.com

pharmazeutische-zeitung.de

physiology.org

ajpcell.physiology.org

themedicalbiochemistrypage.org

uk-koeln.de

nephrologie.uk-koeln.de

uni-wuerzburg.de

opus.bibliothek.uni-wuerzburg.de

web.archive.org