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Inborn errors of pyrimidine metabolism: clinical update and therapy

Inborn errors of pyrimidine metabolism: clinical update and therapy

http://www.wikidata.org/entity/Q28244040

about

Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine.CAD mutations and uridine-responsive epileptic encephalopathy.Orotate (orotic acid): An essential and versatile molecule.Pathophysiological Role of Purines and Pyrimidines in Neurodevelopment: Unveiling New Pharmacological Approaches to Congenital Brain Diseases.CDG Therapies: From Bench to Bedside.Pyrimidine metabolism and related diseases

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P2860

Inborn errors of pyrimidine metabolism: clinical update and therapy

http://www.wikidata.org/entity/Q28244040

description

2014 nî lūn-bûn

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2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Inborn errors of pyrimidine metabolism: clinical update and therapy

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Inborn errors of pyrimidine metabolism: clinical update and therapy

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Inborn errors of pyrimidine metabolism: clinical update and therapy

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type

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Inborn errors of pyrimidine metabolism: clinical update and therapy

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Inborn errors of pyrimidine metabolism: clinical update and therapy

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Inborn errors of pyrimidine metabolism: clinical update and therapy

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Inborn errors of pyrimidine metabolism: clinical update and therapy

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Inborn errors of pyrimidine metabolism: clinical update and therapy

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Inborn errors of pyrimidine metabolism: clinical update and therapy

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P1433

Journal of Inherited Metabolic Disease

P1476

Inborn errors of pyrimidine metabolism: clinical update and therapy

@en

P2093

John A Duley

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Shanti Balasubramaniam

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P2860

Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)

Exome sequencing identifies the cause of a mendelian disorder

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Altered thymidine metabolism due to defects of thymidine phosphorylase

Manifestation of the limb prepattern: limb development in the absence of sonic hedgehog function

Orotic aciduria and uridine monophosphate synthase: a reappraisal

Polyglutamation of methotrexate with common polymorphisms in reduced folate carrier, aminoimidazole carboxamide ribonucleotide transformylase, and thymidylate synthase are associated with methotrexate effects in rheumatoid arthritis

Spatial and temporal patterns of ERK signaling during mouse embryogenesis

Pyrimidine 5' nucleotidase deficiency

Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.

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John Christodoulou

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