Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations-Reference-Cited by-同舟云学术

Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

Published:2006 Issue:5 Volume:2 Page:297
ISSN:1479-7364
Container-title:Human Genomics
language:en
Short-container-title:Human Genomics

Author:

Shabbeer Junaid,Yasuda Makiko,Benson Stacy D,Desnick Robert J

Publisher

Springer Science and Business Media LLC

Subject

Drug Discovery,Genetics,Molecular Biology,Molecular Medicine

Reference31 articles.

1. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease

2. Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype1

3. An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy

4. An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

5. Fabry disease: twenty novel α-galactosidase A mutations causing the classical phenotype

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2. Population Frequency of Undiagnosed Fabry Disease in the General Population;Kidney International Reports;2023-07

3. All reported non-canonical splice site variants in GLA cause aberrant splicing;Clinical and Experimental Nephrology;2023-05-31

4. GLA GENE MUTATION IN PATIENTS WITH FABRY DISEASE;Актуальні проблеми сучасної медицини: Вісник Української медичної стоматологічної академії;2023-05-24

5. Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease;International Journal of Molecular Sciences;2023-01-06