References analysis of the Wikipedia article "Hypophosphatasia" in the English version

doi.org

Choida V, Bubbear JS (2019-01-01). "Update on the management of hypophosphatasia". Therapeutic Advances in Musculoskeletal Disease. 11: 1759720X19863997. doi:10.1177/1759720X19863997. PMC 6676257. PMID 31413732.

Fraser D (May 1957). "Hypophosphatasia". The American Journal of Medicine. 22 (5): 730–746. doi:10.1016/0002-9343(57)90124-9. PMID 13410963.

Greenberg CR, Taylor CL, Haworth JC, Seargeant LE, Philipps S, Triggs-Raine B, Chodirker BN (July 1993). "A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites". Genomics. 17 (1): 215–217. doi:10.1006/geno.1993.1305. PMID 8406453.

Orimo H (2016-05-17). "Pathophysiology of hypophosphatasia and the potential role of asfotase alfa". Therapeutics and Clinical Risk Management. 12: 777–786. doi:10.2147/TCRM.S87956. PMC 4876073. PMID 27274262.

García-Fontana C, Villa-Suárez JM, Andújar-Vera F, González-Salvatierra S, Martínez-Navajas G, Real PJ, et al. (July 2019). "Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene". Scientific Reports. 9 (1): 9569. Bibcode:2019NatSR...9.9569G. doi:10.1038/s41598-019-46004-2. PMC 6606844. PMID 31267001.

Fukushima K, Kawai-Kowase K, Yonemoto Y, Fujiwara M, Sato H, Sato M, et al. (April 2019). "Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report". Journal of Medical Case Reports. 13 (1): 101. doi:10.1186/s13256-019-2045-4. PMC 6480864. PMID 31014398.

Colazo JM, Hu JR, Dahir KM, Simmons JH (February 2019). "Neurological symptoms in Hypophosphatasia". Osteoporosis International. 30 (2): 469–480. doi:10.1007/s00198-018-4691-6. PMID 30215116. S2CID 52273027.

Magdaleno AL, Singh S, Venkataraman S, Perilli GA, Lee YY (November 2019). "Adult-Onset Hypophosphatasia: Before and After Treatment with Asfotase ALFA". AACE Clinical Case Reports. 5 (6): e344 – e348. doi:10.4158/ACCR-2019-0143. PMC 6873847. PMID 31967067.

Baumgartner-Sigl S, Haberlandt E, Mumm S, Scholl-Bürgi S, Sergi C, Ryan L, et al. (June 2007). "Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene". Bone. 40 (6): 1655–1661. doi:10.1016/j.bone.2007.01.020. PMID 17395561.

Villa-Suárez JM, García-Fontana C, Andújar-Vera F, González-Salvatierra S, de Haro-Muñoz T, Contreras-Bolívar V, et al. (April 2021). "Hypophosphatasia: A Unique Disorder of Bone Mineralization". International Journal of Molecular Sciences. 22 (9): 4303. doi:10.3390/ijms22094303. PMC 8122659. PMID 33919113.

Shohat, M.; Rimoin, D. L.; Gruber, H. E.; Lachman, R. S. (1991). "Perinatal lethal hypophosphatasia; Clinical, radiologic and morphologic findings". Pediatric Radiology. 21 (6). Springer Science and Business Media LLC: 421–427. doi:10.1007/bf02026677. ISSN 0301-0449. PMID 1749675. S2CID 1088742.

Foster BL, Nociti FH, Somerman MJ (February 2014). "The rachitic tooth". Endocrine Reviews. 35 (1): 1–34. doi:10.1210/er.2013-1009. PMC 3895863. PMID 23939820.

Vogt M, Girschick H, Schweitzer T, Benoit C, Holl-Wieden A, Seefried L, et al. (August 2020). "Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children". Orphanet Journal of Rare Diseases. 15 (1): 212. doi:10.1186/s13023-020-01500-x. PMC 7436954. PMID 32811521.

Marini F, Brandi ML (2017). "Atypical femur fractures: a distinctive tract of adult hypophosphatasia". Clinical Cases in Mineral and Bone Metabolism. 14 (3): 324–328. doi:10.11138/ccmbm/2017.14.3.324. PMC 5762223. PMID 29354161.

Whyte MP (September 2017). "Hypophosphatasia: An overview For 2017". Bone. Rare Bone Diseases. 102: 15–25. doi:10.1016/j.bone.2017.02.011. PMID 28238808.

Reznikov N, Hoac B, Buss DJ, Addison WN, Barros NM, McKee MD (September 2020). "Biological stenciling of mineralization in the skeleton: Local enzymatic removal of inhibitors in the extracellular matrix". Bone. 138: 115447. doi:10.1016/j.bone.2020.115447. PMID 32454257. S2CID 218909350.

McKee MD, Buss DJ, Reznikov N (March 2022). "Mineral tessellation in bone and the stenciling principle for extracellular matrix mineralization". Journal of Structural Biology. 214 (1): 107823. doi:10.1016/j.jsb.2021.107823. PMID 34915130. S2CID 245187449.

Simon-Bouy B, Taillandier A, Fauvert D, Brun-Heath I, Serre JL, Armengod CG, et al. (November 2008). "Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling". Prenatal Diagnosis. 28 (11): 993–998. doi:10.1002/pd.2088. PMID 18925618. S2CID 33682973.

Whyte MP, Essmyer K, Geimer M, Mumm S (June 2006). "Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry". The Journal of Pediatrics. 148 (6): 753–758. doi:10.1016/j.jpeds.2006.01.031. PMID 16769381.

Reibel A, Manière MC, Clauss F, Droz D, Alembik Y, Mornet E, Bloch-Zupan A (February 2009). "Orodental phenotype and genotype findings in all subtypes of hypophosphatasia". Orphanet Journal of Rare Diseases. 4: 6. doi:10.1186/1750-1172-4-6. PMC 2654544. PMID 19232125.

Whyte MP, Mahuren JD, Fedde KN, Cole FS, McCabe ER, Coburn SP (April 1988). "Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase". The Journal of Clinical Investigation. 81 (4): 1234–1239. doi:10.1172/JCI113440. PMC 329654. PMID 3350970.

Schmidt T, Mussawy H, Rolvien T, Hawellek T, Hubert J, Rüther W, et al. (September 2017). "Clinical, radiographic and biochemical characteristics of adult hypophosphatasia". Osteoporosis International. 28 (9): 2653–2662. doi:10.1007/s00198-017-4087-z. PMID 28547134. S2CID 25864719.

Whyte MP, Walkenhorst DA, Fedde KN, Henthorn PS, Hill CS (June 1996). "Hypophosphatasia: levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity". The Journal of Clinical Endocrinology and Metabolism. 81 (6): 2142–2148. doi:10.1210/jcem.81.6.8964842. PMID 8964842.

Shohat M, Rimoin DL, Gruber HE, Lachman RS (1991). "Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings". Pediatric Radiology. 21 (6): 421–427. doi:10.1007/BF02026677. PMID 1749675. S2CID 1088742.

Genest F, Claußen L, Rak D, Seefried L (February 2021). "Bone mineral density and fracture risk in adult patients with hypophosphatasia". Osteoporosis International. 32 (2): 377–385. doi:10.1007/s00198-020-05612-9. PMC 7838076. PMID 32879991.

Zurutuza L, Muller F, Gibrat JF, Taillandier A, Simon-Bouy B, Serre JL, Mornet E (June 1999). "Correlations of genotype and phenotype in hypophosphatasia". Human Molecular Genetics. 8 (6): 1039–1046. doi:10.1093/hmg/8.6.1039. PMID 10332035.

Lawrence JE, Saeed D, Bartlett J, Carrothers AD (2017). "Adult-onset hypophosphatasia diagnosed following bilateral atypical femoral fractures in a 55-year-old woman". Clinical Cases in Mineral and Bone Metabolism. 14 (3): 347–353. doi:10.11138/ccmbm/2017.14.3.347. PMC 5762228. PMID 29354166.

Whyte MP (April 2016). "Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment". Nature Reviews. Endocrinology. 12 (4): 233–246. doi:10.1038/nrendo.2016.14. PMID 26893260. S2CID 20805434.

Camacho PM, Mazhari AM, Wilczynski C, Kadanoff R, Mumm S, Whyte MP (August 2016). "Adult Hypophosphatasia Treated with Teriparatide: Report of 2 Patients and Review of the Literature". Endocrine Practice. 22 (8): 941–950. doi:10.4158/EP15890.OR. PMID 27042741.

Whyte MP, Mumm S, Deal C (April 2007). "Adult hypophosphatasia treated with teriparatide". The Journal of Clinical Endocrinology and Metabolism. 92 (4): 1203–1208. doi:10.1210/jc.2006-1902. PMID 17213282.

Barcia JP, Strife CF, Langman CB (May 1997). "Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization". The Journal of Pediatrics. 130 (5): 825–828. doi:10.1016/S0022-3476(97)80029-7. PMID 9152296.

Opshaug O, Maurseth K, Howlid H, Aksnes L, Aarskog D (May 1982). "Vitamin D metabolism in hypophosphatasia". Acta Paediatrica Scandinavica. 71 (3): 517–521. doi:10.1111/j.1651-2227.1982.tb09466.x. PMID 6291316. S2CID 25957674.

Collmann H, Mornet E, Gattenlöhner S, Beck C, Girschick H (February 2009). "Neurosurgical aspects of childhood hypophosphatasia". Child's Nervous System. 25 (2): 217–223. doi:10.1007/s00381-008-0708-3. PMID 18769927. S2CID 9470770.

Coe JD, Murphy WA, Whyte MP (September 1986). "Management of femoral fractures and pseudofractures in adult hypophosphatasia". The Journal of Bone and Joint Surgery. American Volume. 68 (7): 981–990. doi:10.2106/00004623-198668070-00004. PMID 3745261.

Girschick HJ, Seyberth HW, Huppertz HI (November 1999). "Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugs". Bone. 25 (5): 603–607. doi:10.1016/S8756-3282(99)00203-3. PMID 10574582.

Deeb AA, Bruce SN, Morris AA, Cheetham TD (June 2000). "Infantile hypophosphatasia: disappointing results of treatment". Acta Paediatrica. 89 (6): 730–733. doi:10.1080/080352500750044106. PMID 10914973.

Whyte MP, Kurtzberg J, McAlister WH, Mumm S, Podgornik MN, Coburn SP, et al. (April 2003). "Marrow cell transplantation for infantile hypophosphatasia". Journal of Bone and Mineral Research. 18 (4): 624–636. doi:10.1359/jbmr.2003.18.4.624. PMID 12674323.

Cahill RA, Wenkert D, Perlman SA, Steele A, Coburn SP, McAlister WH, et al. (August 2007). "Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts". The Journal of Clinical Endocrinology and Metabolism. 92 (8): 2923–2930. doi:10.1210/jc.2006-2131. PMID 17519318.

Whyte MP, Valdes R, Ryan LM, McAlister WH (September 1982). "Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease". The Journal of Pediatrics. 101 (3): 379–386. doi:10.1016/S0022-3476(82)80061-9. PMID 7108657.

Whyte MP, McAlister WH, Patton LS, Magill HL, Fallon MD, Lorentz WB, Herrod HG (December 1984). "Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients". The Journal of Pediatrics. 105 (6): 926–933. doi:10.1016/S0022-3476(84)80079-7. PMID 6502342.

Güzel Nur B, Çelmeli G, Manguoğlu E, Soyucen E, Bircan İ, Mıhçı E (September 2016). "Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene". Journal of Clinical Research in Pediatric Endocrinology. 8 (3): 360–364. doi:10.4274/jcrpe.2798. PMC 5096504. PMID 27086862.

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Fraser D (May 1957). "Hypophosphatasia". The American Journal of Medicine. 22 (5): 730–746. doi:10.1016/0002-9343(57)90124-9. PMID 13410963.

Jaruratanasirikul S, Chanvitan P (December 1999). "Hypophosphatasia: the importance of alkaline phosphatase in bone mineralization". Journal of the Medical Association of Thailand = Chotmaihet Thangphaet. 82 (12): 1268–1272. PMID 10659574.

Millán JL, Plotkin H (September 2012). "Hypophosphatasia - pathophysiology and treatment". Actualizaciones en Osteologia. 8 (3): 164–182. PMC 4171060. PMID 25254037.

Foster BL, Nociti FH, Somerman MJ (February 2014). "The rachitic tooth". Endocrine Reviews. 35 (1): 1–34. doi:10.1210/er.2013-1009. PMC 3895863. PMID 23939820.

Whyte MP (September 2017). "Hypophosphatasia: An overview For 2017". Bone. Rare Bone Diseases. 102: 15–25. doi:10.1016/j.bone.2017.02.011. PMID 28238808.

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"Hypophosphatasia". Genetics Home Reference.

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