Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). - Wikidata - awgldk - TriplyDB

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

http://www.wikidata.org/entity/Q34642730

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Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA)Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction Ion-abrasion scanning electron microscopy reveals distorted liver mitochondrial morphology in murine methylmalonic acidemia.Inborn errors of cobalamin absorption and metabolism.Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency.Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy.Renal growth in isolated methylmalonic acidemia Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations.Maleic Acid--but Not Structurally Related Methylmalonic Acid--Interrupts Energy Metabolism by Impaired Calcium Homeostasis.Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.Neurocognitive phenotype of isolated methylmalonic acidemia Gene therapy in a murine model of methylmalonic acidemia using rAAV9-mediated gene delivery Population prevalence, attributable risk, and attributable risk percentage for high methylmalonic acid concentrations in the post-folic acid fortification period in the US.Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures.Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.Mitochondrial dysfunction in mut methylmalonic acidemia.Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study.Enamel defects and salivary methylmalonate in methylmalonic acidemia.Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia.Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist.Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria.Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants.MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia.

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P2860

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

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description

2007 nî lūn-bûn

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2007 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի օգոստոսին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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Long-term outcome in methylmal ...... fect (mut0, mut-, cblA, cblB).

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Pediatric Research

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Brian Fowler

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Caroline Viardot

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E Regula Baumgartner

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