Inborn errors of cobalamin absorption and metabolism. - Wikidata - awgldk - TriplyDB

Inborn errors of cobalamin absorption and metabolism.

Inborn errors of cobalamin absorption and metabolism.

http://www.wikidata.org/entity/Q33394088

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Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency Severe vitamin B12 deficiency in an exclusively breastfed 5-month-old Italian infant born to a mother receiving multivitamin supplementation during pregnancy Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1 Impaired hydrogen sulfide synthesis and IL-10 signaling underlie hyperhomocysteinemia-associated exacerbation of colitis.Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism.Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario.Methylmalonic acidemia and diabetic ketoacidosis: An unusual association.Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects.Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.Effect of MTHFR Gene Polymorphism Impact on Atherosclerosis via Genome-Wide Methylation Hereditary intrinsic factor deficiency in chaldeans.Vitamin B12 deficiency presenting as acute ataxia New insights into the metabolic and nutritional determinants of severe combined immunodeficiency.Degenerative liver disease in young Beagles with hereditary cobalamin malabsorption because of a mutation in the cubilin gene Defect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation.Cellular uptake of cobalamin: transcobalamin and the TCblR/CD320 receptor.Membrane transporters in a human genome-scale metabolic knowledgebase and their implications for disease.Inborn errors of metabolism underlying primary immunodeficiencies.Understanding chronic neutropenia: life is short.Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity."Classical organic acidurias": diagnosis and pathogenesis.Molecular picture of cobalamin C/D defects before and after newborn screening era.Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect.Analysis of methylcitrate in dried blood spots by liquid chromatography-tandem mass spectrometry.Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency.Systemic Scedosporium prolificans infection in an 11-month-old Border collie with cobalamin deficiency secondary to selective cobalamin malabsorption (canine Imerslund-Gräsbeck syndrome).Defects in cobalamin (B12) metabolism Cobalamin (Cbl, vitamin B12) transport and metabolism Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.The Human Knockout Gene CLYBL Connects Itaconate to Vitamin B12.TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells.APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.Methionine synthase reductase deficiency (CblE): A report of two patients and a novel mutation.Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias.Vitamin B12 deficiency: the great masquerader.Prospective long-term evaluation of parenteral hydroxocobalamin supplementation in juvenile beagles with selective intestinal cobalamin malabsorption (Imerslund-Gräsbeck syndrome).

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P2860

Inborn errors of cobalamin absorption and metabolism.

http://www.wikidata.org/entity/Q33394088

description

2011 nî lūn-bûn

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2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի փետրվարին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Inborn errors of cobalamin absorption and metabolism.

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Inborn errors of cobalamin absorption and metabolism.

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Inborn errors of cobalamin absorption and metabolism.

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Inborn errors of cobalamin absorption and metabolism.

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Inborn errors of cobalamin absorption and metabolism.

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Inborn errors of cobalamin absorption and metabolism.

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P1433

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

P1476

Inborn errors of cobalamin absorption and metabolism.

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P2093

David S Rosenblatt

http://www.w3.org/2001/XMLSchema#string

David Watkins

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P2860

Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

Human methionine synthase reductase, a soluble P-450 reductase-like dual flavoprotein, is sufficient for NADPH-dependent methionine synthase activation

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

The protein and the gene encoding the receptor for the cellular uptake of transcobalamin-bound cobalamin

Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria

Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders

Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.

Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L

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33-44

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scholarly article

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10.1002/AJMG.C.30288

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1

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P478

157C

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2011-02-10T00:00:00Z

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49827809

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21312325

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