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Diagnosis and management of glutaric aciduria type I – revised recommendations

Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.677-694

2011

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Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

PLoS genetics, 2020-10, Vol.16 (10), p.e1009156-e1009156

2020

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Association of a Genetic Variant of Carnitine Palmitoyltransferase 1A with Infections in Alaska Native Children

The Journal of pediatrics, 2013-12, Vol.163 (6), p.1716-1721

2013

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Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice

Blood, 2010-04, Vol.115 (16), p.3374-3381

2010

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Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of gcdh-/- mice: possible implications for the neuropathology of glutaric acidemia type I

PloS one, 2014-03, Vol.9 (3), p.e90477-e90477

2014

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Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency

Journal of neurochemistry, 2006-05, Vol.97 (3), p.899-910

2006

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Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I — A decade of experience

Molecular genetics and metabolism, 2012-09, Vol.107 (1-2), p.72-80

2012

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Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency

Annals of neurology, 2004-01, Vol.55 (1), p.7-12

2004

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Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

Journal of inherited metabolic disease, 2017, Vol.40 (1), p.75-101

2017

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Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I

Acta neuropathologica communications, 2014-01, Vol.2 (1), p.13-13, Article 13

2014

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MDL1 is a High Copy Suppressor of ATM1: Evidence for a Role in Resistance to Oxidative Stress

Journal of molecular biology, 2003-08, Vol.331 (1), p.155-165

2003

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Prevalence and Distribution of the c.1436C→T Sequence Variant of Carnitine Palmitoyltransferase 1A among Alaska Native Infants

The Journal of pediatrics, 2011, Vol.158 (1), p.46-51

2011

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Glutaric Aciduria Type 1 Metabolites Impair the Succinate Transport from Astrocytic to Neuronal Cells

The Journal of biological chemistry, 2011-05, Vol.286 (20), p.17777-17784

2011

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Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome

American journal of ophthalmology case reports, 2018-06, Vol.10, p.244-248

2018

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yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

PLoS genetics, 2020-06, Vol.16 (6), p.e1008841-e1008841

2020

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Statistically Driven Metabolite and Lipid Profiling of Patients from the Undiagnosed Diseases Network

Analytical chemistry (Washington), 2020-01, Vol.92 (2), p.1796-1803

2020

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Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I

Brain (London, England : 1878), 2011, Vol.134 (Pt 1), p.157-170

2011

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Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A

Genetics in medicine, 2016-09, Vol.18 (9), p.933-939

2016

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Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

Molecular genetics and metabolism, 2015-12, Vol.116 (4), p.252-259

2015

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Health effects of the CPT1A P479L variant: responsible public health policy

Genetics in medicine, 2017-12, Vol.19 (12), p.1380-1382

2017

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Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I

Epilepsia (Copenhagen), 2017-10, Vol.58 (10), p.1771-1781

2017

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The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings

Journal of community genetics, 2023-12, Vol.14 (6), p.613-620

2023

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Mutation of a Putative Mitochondrial Iron Transporter Gene (ABC7) in X-Linked Sideroblastic Anemia and Ataxia (XLSA/A)

Human molecular genetics, 1999-05, Vol.8 (5), p.743-749

1999

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Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease

American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2500-2504

2017

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Diagnosis and management of glutaric aciduria type I – revised recommendations

Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

Association of a Genetic Variant of Carnitine Palmitoyltransferase 1A with Infections in Alaska Native Children

Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice

Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of gcdh-/- mice: possible implications for the neuropathology of glutaric acidemia type I

Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I — A decade of experience

Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I

MDL1 is a High Copy Suppressor of ATM1: Evidence for a Role in Resistance to Oxidative Stress

Prevalence and Distribution of the c.1436C→T Sequence Variant of Carnitine Palmitoyltransferase 1A among Alaska Native Infants

Glutaric Aciduria Type 1 Metabolites Impair the Succinate Transport from Astrocytic to Neuronal Cells

Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

Statistically Driven Metabolite and Lipid Profiling of Patients from the Undiagnosed Diseases Network

Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I

Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

Health effects of the CPT1A P479L variant: responsible public health policy

Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I

The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings

Mutation of a Putative Mitochondrial Iron Transporter Gene (ABC7) in X-Linked Sideroblastic Anemia and Ataxia (XLSA/A)

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-Coa dehydrogenase deficiency

Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease

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