A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.

Hijazi, Ghada; Paschall, Anna; Young, Sarah P; Smith, Brian; Case, Laura E; Boggs, Tracy; Amarasekara, Sathya; Austin, Stephanie L; Pendyal, Surekha; El-Gharbawy, Areeg; Deak, Kristen L; Muir, Andrew J; Kishnani, Priya S

Hijazi, Ghada; Paschall, Anna; Young, Sarah P; Smith, Brian; Case, Laura E; Boggs, Tracy; Amarasekara, Sathya; Austin, Stephanie L; Pendyal, Surekha; El-Gharbawy, Areeg; Deak, Kristen L; Muir, Andrew J; Kishnani, Priya S.

Affiliation

Hijazi G; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Paschall A; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Young SP; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Smith B; Division of Neonatal-Perinatal Medicine, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Case LE; Doctor of Physical Therapy Division, Department of Orthopedic Surgery, Duke University School of Medicine, Durham, NC, USA.
Boggs T; Duke University Health System, Department of Physical Therapy and Occupational Therapy, USA.
Amarasekara S; Duke University School of Nursing, Durham, NC, USA.
Austin SL; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Pendyal S; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
El-Gharbawy A; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Deak KL; Department of Pathology, Duke University, Durham, NC, USA.
Muir AJ; Division of Gastroenterology, Duke University School of Medicine, Durham, NC, USA.
Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

Mol Genet Metab Rep ; 29: 100821, 2021 Dec.

Article in En | MEDLINE | ID: mdl-34820282

Key words

AFP, Alpha-fetoprotein; ALT, Alanine aminotransferase; AST, Aspartate aminotransferase; BG, Blood glucose; BMI, Body mass index; CEA, Carcinoembryonic antigen; CPK, Creatine phosphokinase; CT scan, Computerized tomography scan; Cardiomyopathy; Cirrhosis; DM, Diabetes mellitus; GDE, Glycogen debrancher enzyme; GGT, Gamma glutamyl transferase; GSD, Glycogen storage disease; Glc4, Glucose tetrasaccharide; Glycogen storage disease type III (GSD III); HDL, High density lipoprotein; Hypoglycemia; LDL, Low density lipoproteins; LT, liver transplantation.; Left ventricular hypertrophy (LVH); MRI, Magnetic resonance imaging; TGs, Triglycerides; US, Ultrasound; and myopathy

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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Observational_studies / Risk_factors_studies Language: En Journal: Mol Genet Metab Rep Year: 2021 Type: Article Affiliation country: United States

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