Genotype–Phenotype Correlation in a New Fabry-Disease-Causing Mutation
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چکیده
منابع مشابه
A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy
Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypoton...
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BACKGROUND Fabry disease (FD) is an X-linked multisystemic disorder with a heterogeneous phenotype. Especially atypical or late-onset type 2 phenotypes present a therapeutical dilemma. METHODS To determine the clinical impact of the alpha-Galactosidase A (GLA) p.A143T/ c.427G > A variation, we retrospectively analyzed 25 p.A143T patients in comparison to 58 FD patients with other missense mut...
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Fabry’s disease is an X-linked recessive lysosomal storage disorder that is caused by the deficient activity of the lysosomal α-galactosidase (α-GAL A). This results in the accumulation of globotriaosylceramide (GL3 or ceramide trihexoside, CTH) and related glycosphingolipids. In hemizygous male patients with the classic phenotype, levels of αGAL A activity are very low or undetectable. Patient...
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ژورنال
عنوان ژورنال: Medicina
سال: 2019
ISSN: 1648-9144
DOI: 10.3390/medicina55050122