ReviewHuman genetics1996
Genetic deficiencies of the glycogen phosphorylase system.
Review in Human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 41 citations in OpenAlex.
- Hepatic glycogen storage diseases: pathogenesis, clinical symptoms and therapeutic management.Archives of medical science : AMS · 2021Article
- Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.Molecular genetics and metabolism · 2020Article
- Article
- Cloning and expression patterns of the brine shrimp (Artemia sinica) glycogen phosphorylase (GPase) gene during development and in response to temperature stress.Molecular biology reports · 2014Article
- Glycogen storage diseases: new perspectives.World journal of gastroenterology · 2007Review
- Characteristic growth pattern in male X-linked phosphorylase-b kinase deficiency (GSD IX).Journal of inherited metabolic disease · 2003Article
- Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.American journal of human genetics · 1999Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Several types of glycogen storage disease attributable to a deficiency of phosphorylase or phosphorylase kinase have been described. These diseases have been divided according to clinical symptoms, mode of inheritance, and affected tissue. However, this classification is questionable, as the clinical symptoms of these different diseases are similar, the mode of inheritance is often difficult to establish, and the biochemical assays are subject to several technical problems. A better classification would be based upon the identification of mutations in the respective disease genes. The molecular heterogeneity, however, is large, and at least 10 genes are involved. Mutations have been found in the muscle phosphorylase gene in patients with muscle phosphorylase deficiency, in the gene encoding the liver alpha subunit of phosphorylase kinase in patients with X-linked liver glycogenosis, and in the gene for the muscle alpha subunit of phosphorylase kinase in a patient with muscle phosphorylase kinase deficiency. We review here the different deficiencies of the phosphorylase system.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.