Lysosomal storage disorders (LSDs) are a vast group of more than 50 clinically identified
metabolic diseases. They are singly rare, but they affect collectively 1 on 5,000 live births …

Introduction Pompe disease is an autosomal recessive disorder caused by a deficiency of
acid-α-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal glycogen. A …

ABSTRACT Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant
neurodegenerative disorder caused by a CAG repeat expansion in the coding region of the …

Lysosomes are acidic organelles present in all nucleated mammalian cells. They represent
the final destination for the degradation of extracellular and intracellular material therein …

Pompe disease is an autosomal recessive glycogen storage disease caused by mutations in
the gene that encodes acid alpha-glucosidase (GAA)—an enzyme responsible for …

Background Pompe disease is a rare autosomal recessive disease. Acid alpha−
glucosidase (GAA) deficiency leads to glycogen storage in lysosomes, causing skeletal …

Abstract Background Late-onset Pompe disease (LOPD) patients may still need ventilation
support at some point of their disease course, despite regular recombinant human …

庞贝病（ Pompe disease） 亦称糖原贮积病Ⅱ 型， 是常染色体隐性遗传的罕见病，
随着酶替代疗法的应用， 越来越多的庞贝病患者可存活至成年， 以往未曾观察到的神经系统 …

This study evaluates the whole airway abnormalities of long‐term treated late‐onset Pompe
disease (LOPD) patients, with interventions using the flexible bronchoscope (FB). As a …

Pompe disease is a rare genetic disorder with an estimated incidence of 1 in 40,000
individuals worldwide. This autosomal recessive disease is a neuromuscular disorder …