Associated Papers
Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.
Xiao D et al.
Frontiers in Genetics, 2024
39076170 (PubMed )
Supplement: Table1.DOCX
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
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European Journal of Pediatrics, 2002
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
Santer R et al.
Human Mutation, 2000
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.
Galli L et al.
Febs Letters, 1999
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