Associated Papers
Current status of newborn screening for Pompe disease in Japan.
Sawada T et al.
Orphanet Journal of Rare Diseases, 2021
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
de Faria DOS et al.
Human Mutation, 2021
A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy.
Moravej H et al.
Iranian Journal of Medical Sciences, 2018
[Two new mutations in the gene that codes for acid alpha-glucosidase in an adolescent with late-onset Pompe disease].
Guevara-Campos J et al.
Revista De Neurologia, 2013
Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.
Huie ML et al.
American Journal of Human Genetics, 2002
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