| The variable clinical phenotype of liver glycogen synthase deficiency. | |
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MedLine Citation:
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PMID: 18341095 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report two new cases of liver glycogen synthase deficiency (GSD0). The first patient presented at the age of 8 months with recurrent hypoglycemic seizures. The second patient presented at 14 months with asymptomatic incidental hyperglycemia. Glucose monitoring in both patients revealed daily fluctuations from fasting hypoglycemia to postprandial hyperglycemia. Genetic analysis of the GYS2 gene confirmed the diagnosis. GSD0 is more common than previously assumed. Recognition of the variable phenotype spectrum of GSD0 and routine analysis of GYS2 are essential for the correct diagnosis. |
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Authors:
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R Spiegel; J Mahamid; M Orho-Melander; D Miron; Y Horovitz |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of pediatric endocrinology & metabolism : JPEM Volume: 20 ISSN: 0334-018X ISO Abbreviation: J. Pediatr. Endocrinol. Metab. Publication Date: 2007 Dec |
Date Detail:
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Created Date: 2008-03-17 Completed Date: 2008-05-12 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9508900 Medline TA: J Pediatr Endocrinol Metab Country: England |
Other Details:
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Languages: eng Pagination: 1339-42 Citation Subset: IM |
Affiliation:
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Pediatric Department A, HaEmek Medical Center, Afula. spiegelr@zahav.net.il |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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DNA Mutational Analysis Female Glycogen Storage Disease / diagnosis*, enzymology, genetics Glycogen Synthase / deficiency*, genetics Humans Infant Liver / enzymology* Mutation Phenotype |
| Chemical | |
Reg. No./Substance:
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EC 2.4.1.11/Glycogen Synthase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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