Clinical case reports, 2023-05, Vol.11 (5), p.e7318-n/a
2023
Details
- Autor(en) / Beteiligte
- Titel
- Glycogen storage disease in two sisters: A case report
- Ist Teil von
- Clinical case reports, 2023-05, Vol.11 (5), p.e7318-n/a
- Ort / Verlag
- England: John Wiley & Sons, Inc
- Erscheinungsjahr
- 2023
- Link zum Volltext
- Quelle
- Electronic Journals Library
- Beschreibungen/Notizen
- Key Clinical Message Glycogen storage diseases (GSDs) are rare autosomal disorders that result from defects in glycogen metabolism. There are more than 12 types, each with distinct clinical features. Clinical scenario, biochemical abnormalities are useful for suspicion whereas liver biopsy and enzyme assay provides definite diagnosis. We report a case of two sisters with similar clinical symptoms suggestive of the disease.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 2050-0904eISSN: 2050-0904DOI: 10.1002/ccr3.7318Titel-ID: cdi_doaj_primary_oai_doaj_org_article_328f7c5a2b434178b0b044cfdeb9f8e2
- Format
- –
- Schlagworte
- Abdomen, Biopsy, Birth weight, Case Report, Case reports, Children & youth, Conflicts of interest, Consent, Convulsions & seizures, Disease, Editing, Enzymes, Failure to thrive, Glucose, glycogen storage disease, hepatomegaly, Hyperlipidemia, Hypoglycemia, Liver cancer, Marriage, metabolic, Metabolic disorders, Parents & parenting, Patients, Tumors, Writing