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Glutaryl-CoA dehydrogenase deficiency

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Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl‐CoA Dehydrogenase Deficiency (GA1): Report of Two Cases

• Authors : Anne M. Ranney; Malgosia A. Kokoszka; Kevin A. Strauss

Subjects: 03 medical and health sciences; 0302 clinical medicine; 3. Good health

• Source: Movement Disorders Clinical Practice. 3:296-299

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Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx

• Authors : Ann B. Moser; D. Holmes Morton; Joan Brumbaugh

Subjects: Male; 0301 basic medicine; Endocrinology, Diabetes and Metabolism

• Source: Molecular Genetics and Metabolism. 104:93-106

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Glutaric Acid and Its Metabolites Cause Apoptosis in Immature Oligodendrocytes: A Novel Mechanism of White Matter Degeneration in Glutaryl-CoA Dehydrogenase Deficiency

• Authors : Monika Marcinkowski; Bettina Gerstner; Marco Sifringer

Subjects: 0301 basic medicine; Oxidoreductases Acting on CH-CH Group Donors; Base Sequence

• Source: Pediatric Research. 57:771-776

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Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency

• Authors : D. Holmes Morton; Kevin A. Strauss; Max Wintermark

Subjects: Male; Glutaryl-CoA Dehydrogenase; Developmental Disabilities

• Source: Brain. 130:1905-1920

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Maturation-Dependent Neurotoxicity of 3-Hydroxyglutaric and Glutaric Acids In Vitro : A New Pathophysiologic Approach to Glutaryl-CoA Dehydrogenase Deficiency

• Authors : Stefan Kölker; Josef Krieglstein; Barbara Ahlemeyer

Subjects: Neurons; 0301 basic medicine; Oxidoreductases Acting on CH-CH Group Donors

• Source: Pediatric Research. 47:495-503

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Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany

• Authors : Esther M. Maier; Sven F. Garbade; Julia B. Hennermann

Subjects: Male; Genotype; Glutaryl-CoA Dehydrogenase

• Source: Pediatric Research. 62:357-363

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Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

• Authors : Kolker S; Garbade SF; Greenberg CR

Subjects: Adult; Male; 0301 basic medicine

• Source: PEDIATRIC RESEARCHr-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de DéuFundació Sant Joan de Déu

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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

• Authors : Jürgen G. Okun; Gert Fricker; Friederike Hörster

Subjects: Mice, Knockout; Glutaryl-CoA Dehydrogenase; Blotting, Western

• Source: Journal of Neurochemistry. 97:899-910

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Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct

• Authors : Busquets C; Merinero B; Christensen E

Subjects: Male; Oxidoreductases Acting on CH-CH Group Donors; Polymorphism, Genetic

• Source: PEDIATRIC RESEARCHr-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de DéuinstnameFundació Sant Joan de Déur-FSJD: Repositorio

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