Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female-Reference-Cited by-同舟云学术

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Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female

Published:2003-08-14 Issue:3 Volume:22 Page:258-258
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Rodríguez-Marí Adriana,Coll M. José,Chabás Amparo

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 64 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Assessment of combined α-GAL enzyme activity and lyso-GL3 for Fabry disease screening in women with chronic kidney disease;Molecular Genetics and Metabolism;2024-09

2. Anderson–Fabry Disease Homozygosity: Rare Case of Late-Onset Variant;Cardiogenetics;2024-04-07

3. Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations, and Therapeutic Advances in Fabry Disease and Marfan Syndrome;Rare Genetic Disorders;2024

4. Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family;Journal of Clinical Medicine;2023-08-31

5. The Diagnostic and Therapeutic Challenges of Fabry Nephropathy—A Review of the Literature, Illustrated by a Clinical Case;Open Journal of Nephrology;2023

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