Search Results - "Hijazi, Ghada"
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Use of waxy maize heat modified starch in the treatment of children between 2 and 5 years with glycogen storage disease type I: A retrospective study
Published in Molecular genetics and metabolism reports (01-12-2019)“…Glycogen storage disease type I (GSDI) is caused by deficiency of the enzyme glucose-6-phosphatase or glucose-6-phosphate transporter. Mainstay of treatment is…”
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A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III
Published in Molecular genetics and metabolism reports (01-12-2021)“…A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement…”
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Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type III
Published in JIMD reports (01-03-2021)“…Aim The urinary glucose tetrasaccharide, Glcα1‐6Glcα1‐4Glcα1‐4Glc (Glc4), is a glycogen limit dextrin that is elevated in patients with glycogen storage…”
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Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature
Published in Molecular genetics and metabolism (01-11-2021)“…Early recognized manifestations of GSD III include hypoglycemia, hepatomegaly, and elevated liver enzymes. Motor symptoms such as fatigue, muscle weakness,…”
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A RETROSPECTIVE LONGITUDINAL STUDY AND COMPREHENSIVE REVIEW OF ADULT PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE III
Published in Molecular genetics and metabolism (01-04-2022)Get full text
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Defects in Metabolism of Carbohydrates
Published in Nelson Textbook of Pediatrics (01-01-2025)Get full text
Book Chapter -
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Chapter 107 - Defects in Metabolism of Carbohydrates
Published in Nelson Textbook of Pediatrics (2025)Get full text
Book Chapter