(Q56567327)

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article published in 2002

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scholarly article

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V. Kožich

6

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J. Zeman

3

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author name string

P. Zavaď'áková

1

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B. Fowler

2

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T. Suormala

4

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K. Pšistoupilová

5

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publication date

2002

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Journal of Inherited Metabolic Disease

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25

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6

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461-476

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Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection

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Isocratic high performance liquid chromatographic analysis of S-adenosylmethionine and S-adenosylhomocysteine in animal tissues: the effect of exposure to nitrous oxide

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Higher total plasma homocysteine in vitamin B12 deficiency than in heterozygosity for homocystinuria due to cystathionine beta-synthase deficiency

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Purification of soluble cytochrome b5 as a component of the reductive activation of porcine methionine synthase

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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The methylcobalamin metabolism of cultured human fibroblasts

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RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

1 reference

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Genetic defects of folate and cobalamin metabolism

1 reference

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Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease).

1 reference

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

1 reference

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

1 reference

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Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene

1 reference

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Measurement of 5-methyltetrahydrofolic acid in man by high-performance liquid chromatography

1 reference

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Cobalamin Binding and Cobalamin-Dependent Enzyme Activity in Normal and Mutant Human Fibroblasts

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

1 reference

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Methylenetetrahydrofolate reductase in cultured human cells. I. Growtha and metabolic studies

1 reference

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

1 reference

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Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells

1 reference

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

1 reference

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based on heuristic

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

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism

1 reference

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7 January 2021

based on heuristic

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10.1023/A:1021299117308

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