Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review. - Wikidata - awgldk - TriplyDB

Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review.

Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review.

http://www.wikidata.org/entity/Q41586869

about

Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes Stroke in children: genetic and metabolic issues.Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.Restricted role for methionine synthase reductase defined by subcellular localization.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Isolated remethylation disorders: do our treatments benefit patients?The structural basis for methylmalonic aciduria. The crystal structure of archaeal ATP:cobalamin adenosyltransferase.Methionine synthase reductase deficiency (CblE): A report of two patients and a novel mutation.

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P2860

Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review.

http://www.wikidata.org/entity/Q41586869

description

1997 nî lūn-bûn

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1997年の論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年论文

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1997年论文

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1997年论文

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name

Functional methionine synthase ...... of two patients and a review.

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Functional methionine synthase ...... of two patients and a review.

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Functional methionine synthase ...... of two patients and a review.

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(SICI)1096-8628(19970905)71:4%3C384::AID-AJMG3%3E3.0.CO;2-U

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American Journal of Medical Genetics Part A

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Functional methionine synthase ...... of two patients and a review.

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Arnold G

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Barness LA

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Harding CO

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Rosenblatt DS

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Wolff JA

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P2860

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

Defects in human methionine synthase in cblG patients

Interrelations of vitamin B12 and folic acid metabolism: folic acid clearance studies.

Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.

Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity.

Inherited defects of vitamin B12 metabolism.

Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis.

Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood.

Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease).

Vitamin B12 responsive homocystinuria and megaloblastic anemia: heterogeneity in methylcobalamin deficiency.

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384-390

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