Pompe disease (GSD II) is an autosomal recessive disorder caused by deficiency of the
lysosomal enzyme acid-a-glucosidase (GAA; EC 3.2. 1.20), leading to generalized …

Many substances, including commonly prescribed medications, can produce adverse effects
on muscle. 1–4 Alcohol, one of the oldest substances known, has an ability to cause muscle …

Background Interest in lysosomal storage diseases in newborn screening programs has
increased in recent years. Two techniques, fluorescence (4-MU) and tandem mass …

Pompe disease is a rare, autosomal recessive disorder characterized by deficiency of
lysosomal acid alpha-glucosidase and accumulation of lysosomal glycogen in many tissues …

Technological developments in newborn and population screening, biomarker discovery for
monitoring treatment and rapid high throughput DNA sequencing are having a great impact …

Hunter disease (Mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage
disorder caused by deficiency of iduronate-2-sulfatase (IDS). Two main therapies have been …

This study aimed to determine the enzymatic activity in dried blood samples collected on
filter paper (DBS) for the diagnosis of the following diseases: Fabry, Pompe …

Background Pompe disease is an inherited autosomal recessive deficiency of acid α-
glucosidase (GAA) and is due to pathogenic sequence variants in the corresponding GAA …

[目的] 鉴定一个婴儿肥厚型心肌病家系GAA 基因的致病性突变.[方法] 分析一例患病女婴的临床
及家系资料; 提取先证者及其父母和姐姐的外周血DNA, PCR 扩增GAA 基因的全部20 …

A Doença de Pompe (DP), também conhecida como Doença de Armazenamento do
Gligogênio Tipo II, é uma doença lisossômica de depósito (DLD) causada pela deficiência …