Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease

BACKGROUND: Pompe disease is a lysosomal storage disorder caused by the deficiency of enzyme acid alpha-glucosidase (GAA) which results in accumulation of glycogen, particularly in the skeletal, cardiac, and smooth muscles. The late-onset form with symptoms presenting in childhood through adulthood,...

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Salvato in:
Dettagli Bibliografici
Pubblicato in:Ann Transl Med
Autori principali: Alandy-dy, Jousef, Wencel, Marie, Hall, Kathy, Simon, Julie, Chen, Yanjun, Valenti, Erik, Yang, Jade, Bali, Deeksha, Lakatos, Anita, Goyal, Namita, Mozaffar, Tahseen, Kimonis, Virginia
Natura: Artigo
Lingua:Inglês
Pubblicazione: AME Publishing Company 2019
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6642945/
https://ncbi.nlm.nih.gov/pubmed/31392188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2019.06.48
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