[PDF][PDF] High incidence of later-onset Fabry disease revealed by newborn screening

M Spada, S Pagliardini, M Yasuda, T Tukel… - The American Journal of …, 2006 - cell.com
The classic phenotype of Fabry disease, X-linked α-galactosidase A (α-Gal A) deficiency,
has an estimated incidence of∼ 1 in 50,000 males. The recent recognition of later-onset …

Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes

M Yasuda, B Chen, RJ Desnick - Molecular genetics and metabolism, 2019 - Elsevier
The inborn errors of heme biosynthesis, the Porphyrias, include eight major disorders
resulting from loss-of-function (LOF) or gain-of-function (GOF) mutations in eight of the nine …

Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

B Chen, C Solis‐Villa, J Hakenberg, W Qiao… - Human …, 2016 - Wiley Online Library
Acute intermittent porphyria results from hydroxymethylbilane synthase (HMBS) mutations
that markedly decrease HMBS enzymatic activity. This dominant disease is diagnosed when …

Acute intermittent porphyria in children: a case report and review of the literature

M Balwani, P Singh, A Seth, EM Debnath… - Molecular genetics and …, 2016 - Elsevier
Abstract Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme
metabolism, typically presents in adulthood, most often in women in the reproductive age …

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

GA Ashley, J Shabbeer, M Yasuda, CM Eng… - Journal of human …, 2001 - nature.com
Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the
deficient activity of the lysosomal exoglycohydrolase, α-galactosidase A (EC 3.2. 1.22; α-Gal …

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

J Shabbeer, M Yasuda, SD Benson, RJ Desnick - Human genomics, 2006 - Springer
Fabry disease, an X-linked recessive inborn error of glycosphingolipid catabolism, results
from the deficient activity of the lysosomal exoglycohydrolase, α-galactosidase A (EC 3.2 …

Fabry disease: Characterization of α‐galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

M Yasuda, J Shabbeer, SD Benson, I Maire… - Human …, 2003 - Wiley Online Library
Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from
mutations in the gene encoding the lysosomal exoglycohydrolase, α-galactosidase A (α-Gal …

RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice

M Yasuda, L Gan, B Chen, S Kadirvel… - Proceedings of the …, 2014 - National Acad Sciences
The acute hepatic porphyrias are inherited disorders of heme biosynthesis characterized by
life-threatening acute neurovisceral attacks. Factors that induce the expression of hepatic 5 …

[HTML][HTML] Preclinical development of a subcutaneous ALAS1 RNAi therapeutic for treatment of hepatic porphyrias using circulating RNA quantification

A Chan, A Liebow, M Yasuda, L Gan, T Racie… - … Therapy-Nucleic Acids, 2015 - cell.com
The acute hepatic porphyrias are caused by inherited enzymatic deficiencies in the heme
biosynthesis pathway. Induction of the first enzyme 5-aminolevulinic acid synthase 1 …

Fabry disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995–2017

D Doheny, R Srinivasan, S Pagant, B Chen… - Journal of medical …, 2018 - jmg.bmj.com
Background Fabry Disease (FD), an X linked lysosomal storage disease due to pathogenic
α-galactosidase A (GLA) mutations, results in two major subtypes, the early-onset Type 1 …