ReviewBMC pediatrics2021
Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.
Review in BMC pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.
- Pooled it
- Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.Journal of inherited metabolic disease · 2026Observational
- Dietary and Therapeutic Management of Glycogen Storage Disease Type IX: Analysis of a Systematic Review.Children (Basel, Switzerland) · 2026Review
- Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX.European journal of clinical nutrition · 2025Article
- Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.Orphanet journal of rare diseases · 2024Review
- Coordinated transcriptional and post-transcriptional epigenetic regulation during skeletal muscle development and growth in pigs.Journal of animal science and biotechnology · 2022Article
- Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.Orphanet journal of rare diseases · 2022Review
- Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center.Frontiers in neurology · 2022Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundGlycogen storage disease (GSD) type IXb is one of the rare variants of GSDs. It is a genetically heterogeneous metabolic disorder due to deficient hepatic phosphorylase kinase activity. Diagnosis of GSD can be difficult because of overlapping manifestations. Mutation analysis of the genes related to each type of GSD is supposed to be problem-solving, however, the presence of novel mutations can be confusing. In this case report, we will describe our experience with a young girl with the diagnosis of GSD and two novel mutations related to GSD type IXb. CASE PRESENTATION: A 3-year- old girl presented with short stature, hepatomegaly, and liver cirrhosis. No specific diagnosis was made based on laboratory data, so liver biopsy and targeted-gene sequencing (TGS) were performed to find out the specific molecular basis of her disease. It was confirmed that the patient carries two novel variants in the PHKB gene. The variant in the PHKB gene was classified as pathogenic.
conclusionsThis is the first reported case of a dual molecular mutation of glycogen storage disease type IXb in the same patient. Two novel variants in PHKB were identified and one of them was a pathogenic split-site mutation. In conclusion, for the first time, identification of the novel variants in this patient expands the molecular and the phenotype basis of dual variants in GSD-IXb.
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Registered trials
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