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References from A newborn with glycogen storage disease type Ib presenting with hypoglycemia and evidence of mitochondrial dysfunction. Local targets link to admitted publications; unresolved targets remain external evidence.
Multifunctional glucose-6-phosphatase: cellular biology
10.1016/0024-3205(79)90447-8 · 1979 · External reference
Glycogen storage disease type I
1993 · External reference
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics
10.1038/gim.2014.128 · 2014 · External reference
Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European study on glycogen storage disease type I
10.1067/mpd.2000.105232 · 2000 · External reference
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European study on glycogen storage disease type I (ESGSD I)
10.1007/bf02679990 · 2002 · External reference
Neonatal glycogen storage disease Ia
10.1016/j.pedneo.2014.05.003 · 2015 · External reference
A case of glycogen storage disease type Ib presenting with prolonged neonatal hypoglycaemia and minimal metabolic abnormalities
10.1111/j.1651-2227.2009.01548.x · 2010 · External reference
Case report: 3-Methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib
10.1023/b:boli.0000005603.04633.21 · 2003 · External reference
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
10.1007/s10545-018-0149-4 · 2018 · External reference
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
10.1186/s12263-023-00729-y · 2023 · External reference
A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles
10.1186/s13023-025-03537-2 · 2025 · External reference
Hepatic mitochondrial dysfunction is a feature of glycogen storage disease type Ia (GSDIa)
10.1038/srep44408 · 2017 · External reference
Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders
10.1053/meta.2002.30521 · 2002 · External reference
Mitochondrial dysfunction in glycogen storage disorders (GSDs)
10.3390/biom14091096 · 2024 · External reference
Inborn errors of metabolism associated with 3-methylglutaconic aciduria
10.1016/j.cca.2021.08.016 · 2021 · External reference
Molecular mechanism underlying impaired hepatic autophagy in glycogen storage disease type Ib
10.1093/hmg/ddac197 · 2023 · External reference
Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib
10.1182/blood-2007-12-129114 · 2008 · External reference
Metabolic profiling in human fibroblasts enables subtype clustering in glycogen storage disease
10.3389/fendo.2020.579981 · 2020 · External reference
