ArticleJournal of inherited metabolic disease2005
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency.
Article in Journal of inherited metabolic disease, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.Molecular genetics and metabolism reports · 2026Article
- Article
- The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside.Journal of inherited metabolic disease · 2025Article
- Biomarkers in Glycogen Storage Diseases: An Update.International journal of molecular sciences · 2021Review
- Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.Molecular genetics and metabolism reports · 2020Article
- Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review.Medicine · 2019Review
- Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.JIMD reports · 2017Article
- Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.Pediatric gastroenterology, hepatology & nutrition · 2015Article
- Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.European journal of pediatrics · 2014Review
- Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.Molecular genetics and metabolism · 2014Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patients with glycogen storage disease type IXa present with infantile hepatomegaly and a specific growth pattern, and variable biochemical alterations in blood. We studied the clinical and biochemical characteristics including the urinary oligosaccharide excretion of seven unrelated children. The urinary tetraglucoside excretion was increased in four children, three of whom had persistently high cholesterol and triglyceride concentrations. We propose screening for urine tetraglucoside excretion and the measurement of serum cholesterol in patients with growth delay and/or hepatomegaly to assess a possible glycogenosis.
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