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Article

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Apr 2022

İnci Aslı, Kılıç Yıldırım Gonca, Cengiz Ergin Filiz Başak, Sarı Sinan, Eğritaş Gürkan Ödül, Okur İlyas, Biberoğlu Gürsel, Bükülmez Ayşegül, Ezgü Fatih Süheyl, Dalgıç Buket, Tümer Leyla

Abstract excerpt

OBJECTIVES: To reveal the different clinical presentations of liver glycogen storage disease type IX (GSD IX), which is a clinically and genetically heterogeneous type of glycogenosis. METHODS: The data from the electronic hospital records of 25 patients diagnosed with liver GSD IX was reviewed. Symptoms, clinical findings, and laboratory and molecular analysis were assessed. RESULTS: Of the patients, 10 had...

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Identifiers

PMID: 35038814
DOI: 10.1515/jpem-2021-0278

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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