Abetalipoproteinemia (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Abetalipoproteinemia" in English language version.

refsWebsite

Global rank English rank

29nih.gov

4^th place

14doi.org

2^nd place

3clinicaltrials.gov

5,225^th place

4,062^nd place

2semanticscholar.org

11^th place

8^th place

1web.archive.org

1^st place

1medlineplus.gov

1,581^st place

1,299^th place

1rarediseases.org

5,181^st place

3,260^th place

1archives-ouvertes.fr

1,031^st place

879^th place

1mayoclinic.org

1,610^th place

1,279^th place

1ehg.health

low place

archives-ouvertes.fr

hal.archives-ouvertes.fr

Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet G, Durandy A, et al. (July 2011). "A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP)". Human Mutation. 32 (7): 751–9. doi:10.1002/humu.21494. PMID 21394827. S2CID 28693034.

clinicaltrials.gov

Clinical trial number NCT00004574 for "Vitamin Replacement in Abetalipoproteinemia" at ClinicalTrials.gov
Clinical trial number NCT02435940 for "Inherited Retinal Degenerative Disease Registry" at ClinicalTrials.gov
Clinical trial number NCT05208879 for "CArotenoid in hypoChOlesterolemia (CaCo)" at ClinicalTrials.gov

doi.org

Bassen FA, Kornzweig AL (April 1950). "Malformation of the erythrocytes in a case of atypical retinitis pigmentosa". Blood. 5 (4): 381–87. doi:10.1182/blood.V5.4.381.381. PMID 15411425.
Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM, Ben-Yosef T (April 2007). "Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient". Molecular Genetics and Metabolism. 90 (4): 453–7. doi:10.1016/j.ymgme.2006.12.010. PMID 17275380.
Moutzouri E, Elisaf M, Liberopoulos EN (March 2011). "Hypocholesterolemia". Current Vascular Pharmacology. 9 (2): 200–12. doi:10.2174/157016111794519354. PMID 20626336.
Cooper RA, Durocher JR, Leslie MH (July 1977). "Decreased fluidity of red cell membrane lipids in abetalipoproteinemia". The Journal of Clinical Investigation. 60 (1): 115–21. doi:10.1172/JCI108747. PMC 372349. PMID 874076.
Hentati F, El-Euch G, Bouhlal Y, Amouri R (2012). "Ataxia with vitamin E deficiency and abetalipoproteinemia". Ataxic Disorders. Handbook of Clinical Neurology. Vol. 103. pp. 295–305. doi:10.1016/B978-0-444-51892-7.00018-8. ISBN 9780444518927. PMID 21827896.
Hussain MM, Rava P, Walsh M, Rana M, Iqbal J (February 2012). "Multiple functions of microsomal triglyceride transfer protein". Nutrition & Metabolism. 9: 14. doi:10.1186/1743-7075-9-14. PMC 3337244. PMID 22353470.
Najah M, Youssef SM, Yahia HM, Afef S, Awatef J, Saber H, et al. (April 2013). "Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene". Diagnostic Pathology. 8 (1): 54. doi:10.1186/1746-1596-8-54. PMC 3632489. PMID 23556456.
Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, et al. (January 2013). "Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia". Gene. 512 (1): 28–34. doi:10.1016/j.gene.2012.09.117. PMID 23043934.
Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet G, Durandy A, et al. (July 2011). "A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP)". Human Mutation. 32 (7): 751–9. doi:10.1002/humu.21494. PMID 21394827. S2CID 28693034.
Demircioğlu F, Oren H, Yilmaz S, Arslan N, Gürcü O, Irken G (August 2005). "Abetalipoproteinemia: importance of the peripheral blood smear". Pediatric Blood & Cancer. 45 (2): 237. doi:10.1002/pbc.20360. PMID 15765527. S2CID 28481550.
Rader DJ, Brewer HB (August 1993). "Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease". JAMA. 270 (7): 865–9. doi:10.1001/jama.1993.03510070087042. PMID 8340987.
Zamel R, Khan R, Pollex RL, Hegele RA (July 2008). "Abetalipoproteinemia: two case reports and literature review". Orphanet Journal of Rare Diseases. 3 (1): 19. doi:10.1186/1750-1172-3-19. PMC 2467409. PMID 18611256.
Cuerq C, Henin E, Restier L, Blond E, Drai J, Marçais C, et al. (September 2018). "Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease". Journal of Lipid Research. 59 (9): 1640–1648. doi:10.1194/jlr.M085043. PMC 6121919. PMID 30021760.
Cuerq C, Henin E, Restier L, Blond E, Drai J, Marçais C, et al. (September 2018). "Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease". Journal of Lipid Research. 59 (9): 1640–1648. doi:10.1194/jlr.M085043. PMC 6121919. PMID 30021760.

ehg.health

OP EH (2023-11-28). "The Dangers of Untreated STDs: Consequences and Risks | Equality Health". Equality Health Oklahoma. Retrieved 2024-12-12.

mayoclinic.org

"Peripheral neuropathy - Symptoms and causes". Mayo Clinic. Retrieved 2019-11-06.

medlineplus.gov

"Abetalipoproteinemia". MedlinePlus. U.S. National Library of Medicine. February 1, 2018. Retrieved April 22, 2024.

nih.gov

pubmed.ncbi.nlm.nih.gov

Bassen FA, Kornzweig AL (April 1950). "Malformation of the erythrocytes in a case of atypical retinitis pigmentosa". Blood. 5 (4): 381–87. doi:10.1182/blood.V5.4.381.381. PMID 15411425.
Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM, Ben-Yosef T (April 2007). "Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient". Molecular Genetics and Metabolism. 90 (4): 453–7. doi:10.1016/j.ymgme.2006.12.010. PMID 17275380.
Burnett JR, Hooper AJ, Hegele RA (2018-10-25). "Abetalipoproteinemia". Gene Reviews. Seattle, WA, USA: University of Washington. PMID 30358967.
Hasosah MY, Shesha SJ, Sukkar GA, Bassuni WY (October 2010). "Rickets and dysmorphic findings in a child with abetalipoproteinemia". Saudi Medical Journal. 31 (10): 1169–71. PMID 20953537.
Moutzouri E, Elisaf M, Liberopoulos EN (March 2011). "Hypocholesterolemia". Current Vascular Pharmacology. 9 (2): 200–12. doi:10.2174/157016111794519354. PMID 20626336.
Cooper RA, Durocher JR, Leslie MH (July 1977). "Decreased fluidity of red cell membrane lipids in abetalipoproteinemia". The Journal of Clinical Investigation. 60 (1): 115–21. doi:10.1172/JCI108747. PMC 372349. PMID 874076.
Hentati F, El-Euch G, Bouhlal Y, Amouri R (2012). "Ataxia with vitamin E deficiency and abetalipoproteinemia". Ataxic Disorders. Handbook of Clinical Neurology. Vol. 103. pp. 295–305. doi:10.1016/B978-0-444-51892-7.00018-8. ISBN 9780444518927. PMID 21827896.
Hussain MM, Rava P, Walsh M, Rana M, Iqbal J (February 2012). "Multiple functions of microsomal triglyceride transfer protein". Nutrition & Metabolism. 9: 14. doi:10.1186/1743-7075-9-14. PMC 3337244. PMID 22353470.
Najah M, Youssef SM, Yahia HM, Afef S, Awatef J, Saber H, et al. (April 2013). "Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene". Diagnostic Pathology. 8 (1): 54. doi:10.1186/1746-1596-8-54. PMC 3632489. PMID 23556456.
Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, et al. (January 2013). "Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia". Gene. 512 (1): 28–34. doi:10.1016/j.gene.2012.09.117. PMID 23043934.
Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet G, Durandy A, et al. (July 2011). "A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP)". Human Mutation. 32 (7): 751–9. doi:10.1002/humu.21494. PMID 21394827. S2CID 28693034.
Demircioğlu F, Oren H, Yilmaz S, Arslan N, Gürcü O, Irken G (August 2005). "Abetalipoproteinemia: importance of the peripheral blood smear". Pediatric Blood & Cancer. 45 (2): 237. doi:10.1002/pbc.20360. PMID 15765527. S2CID 28481550.
Junaid SZ, Patel K (2024). "Abetalipoproteinamia". StatPearls. Treasure Island (FL): StatPearls Publishing. PMID 30020727. Retrieved 29 April 2024 – via National Library of Medicine.
Ozsoylu S (Jan–Feb 2011). "Red cells in abetalipoproteinemia". The Turkish Journal of Pediatrics. 53 (1): 119. PMID 21534356.
Rader DJ, Brewer HB (August 1993). "Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease". JAMA. 270 (7): 865–9. doi:10.1001/jama.1993.03510070087042. PMID 8340987.
Zamel R, Khan R, Pollex RL, Hegele RA (July 2008). "Abetalipoproteinemia: two case reports and literature review". Orphanet Journal of Rare Diseases. 3 (1): 19. doi:10.1186/1750-1172-3-19. PMC 2467409. PMID 18611256.
Cuerq C, Henin E, Restier L, Blond E, Drai J, Marçais C, et al. (September 2018). "Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease". Journal of Lipid Research. 59 (9): 1640–1648. doi:10.1194/jlr.M085043. PMC 6121919. PMID 30021760.
Cuerq C, Henin E, Restier L, Blond E, Drai J, Marçais C, et al. (September 2018). "Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease". Journal of Lipid Research. 59 (9): 1640–1648. doi:10.1194/jlr.M085043. PMC 6121919. PMID 30021760.

ncbi.nlm.nih.gov

Burnett JR, Hooper AJ, Hegele RA (2018-10-25). "Abetalipoproteinemia". Gene Reviews. Seattle, WA, USA: University of Washington. PMID 30358967.
Cooper RA, Durocher JR, Leslie MH (July 1977). "Decreased fluidity of red cell membrane lipids in abetalipoproteinemia". The Journal of Clinical Investigation. 60 (1): 115–21. doi:10.1172/JCI108747. PMC 372349. PMID 874076.
Hussain MM, Rava P, Walsh M, Rana M, Iqbal J (February 2012). "Multiple functions of microsomal triglyceride transfer protein". Nutrition & Metabolism. 9: 14. doi:10.1186/1743-7075-9-14. PMC 3337244. PMID 22353470.
Najah M, Youssef SM, Yahia HM, Afef S, Awatef J, Saber H, et al. (April 2013). "Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene". Diagnostic Pathology. 8 (1): 54. doi:10.1186/1746-1596-8-54. PMC 3632489. PMID 23556456.
Junaid SZ, Patel K (2024). "Abetalipoproteinamia". StatPearls. Treasure Island (FL): StatPearls Publishing. PMID 30020727. Retrieved 29 April 2024 – via National Library of Medicine.
Zamel R, Khan R, Pollex RL, Hegele RA (July 2008). "Abetalipoproteinemia: two case reports and literature review". Orphanet Journal of Rare Diseases. 3 (1): 19. doi:10.1186/1750-1172-3-19. PMC 2467409. PMID 18611256.
Cuerq C, Henin E, Restier L, Blond E, Drai J, Marçais C, et al. (September 2018). "Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease". Journal of Lipid Research. 59 (9): 1640–1648. doi:10.1194/jlr.M085043. PMC 6121919. PMID 30021760.
Cuerq C, Henin E, Restier L, Blond E, Drai J, Marçais C, et al. (September 2018). "Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease". Journal of Lipid Research. 59 (9): 1640–1648. doi:10.1194/jlr.M085043. PMC 6121919. PMID 30021760.

ghr.nlm.nih.gov

"Abetalipoproteinemia". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 2018-04-18.
"Abetalipoproteinemia". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 2008-02-24.

rarediseases.info.nih.gov

"Abetalipoproteinemia". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. U.S. National Institutes of Health. Archived from the original on 2019-10-14. Retrieved 2019-11-06.

rarediseases.org

Hussain MM (2023-02-17). Abetalipoproteinemia (Report). National Organization for Rare Disorders. Retrieved 2024-04-22.

semanticscholar.org

api.semanticscholar.org

Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet G, Durandy A, et al. (July 2011). "A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP)". Human Mutation. 32 (7): 751–9. doi:10.1002/humu.21494. PMID 21394827. S2CID 28693034.
Demircioğlu F, Oren H, Yilmaz S, Arslan N, Gürcü O, Irken G (August 2005). "Abetalipoproteinemia: importance of the peripheral blood smear". Pediatric Blood & Cancer. 45 (2): 237. doi:10.1002/pbc.20360. PMID 15765527. S2CID 28481550.

web.archive.org

"Abetalipoproteinemia". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. U.S. National Institutes of Health. Archived from the original on 2019-10-14. Retrieved 2019-11-06.