Associated Papers
Achalasia and mental retardation in a child with uniparental disomy of GMPPA treated with POEM.
Qiu X et al.
Gastroenterology Report, 2025
A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants.
Geiculescu I et al.
American Journal of Medical Genetics. Part A, 2022
35665995 (PubMed )
Supplement: AJMG-188-2438-s002.xlsx › Sheet1
GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.
Franzka P et al.
The Journal of Clinical Investigation, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Koehler K et al.
American Journal of Human Genetics, 2013
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