Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. - Wikidata - awgldk - TriplyDB

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

http://www.wikidata.org/entity/Q38072306

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Mitochondrial Cardiomyopathies QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations.Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.When to Suspect and How to Diagnose Mitochondrial Disorders?Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.Experimental Evidence that 3-Methylglutaric Acid Disturbs Mitochondrial Function and Induced Oxidative Stress in Rat Brain Synaptosomes: New Converging Mechanisms.Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.

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Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

http://www.wikidata.org/entity/Q38072306

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S10545-012-9580-0

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Journal of Inherited Metabolic Disease

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Inborn errors of metabolism wi ...... assification and nomenclature.

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P2093

Eva Morava

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Johannes Zschocke

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Marinus Duran

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Peter G Barth

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Ron A Wevers

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Saskia B Wortmann

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Wolfgang Sperl

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Yair Anikster

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P2860

Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

3-Methylglutaconic aciduria type I is caused by mutations in AUH

A novel X-linked gene, G4.5. is responsible for Barth syndrome

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.

The 3-methylglutaconic acidurias: what's new?

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

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923-928

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10.1007/S10545-012-9580-0

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6

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36

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2013-01-08T00:00:00Z

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1016266416

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