The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients

Infantile-Onset Pompe Disease (IOPD) is an autosomal recessive disorder of glycogen metabolism resulting from deficiency of the lysosomal hydrolase acid α-glucosidase encoded by GAA gene. Affected infants present before the age of 12 months with hypotonia, muscle weakness, and hypertrophic cardiomyo...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Al-Hassnan, Zuhair N., Khalifa, Ola A., Bubshait, Dalal K., Tulbah, Sahar, Alkorashy, Maarab, Alzaidan, Hamad, Alowain, Mohammed, Rahbeeni, Zuhair, Al-Sayed, Moeen
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6047460/
https://ncbi.nlm.nih.gov/pubmed/30023291
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.02.001
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