(Q28205877)

English

CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families

scientific article (publication date: October 2002)

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scholarly article

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CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families (English)

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1 reference

based on heuristic

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author name string

P Zavadakova

1

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B Fowler

2

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J Zeman

3

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T Suormala

4

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K Pristoupilová

5

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V Kozich

6

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P Zavad'áková

7

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language of work or name

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publication date

October 2002

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Journal of Inherited Metabolic Disease

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25

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6

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461-76

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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

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methionine and serine formation in control and mutant human cultured fibroblasts: evidence for methyl trapping and characterization of remethylation defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal deoxyuridine suppression test in congenital methylmalonic aciduria-homocystinuria without megaloblastic anemia: divergent biochemical and morphological bone marrow manifestations of disordered cobalamin metabolism in man.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The methylcobalamin metabolism of cultured human fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID 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

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kinetic analysis of genetic complementation in heterokaryons of propionyl CoA carboxylase-deficient human fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Post- and prenatal diagnostic methods for the homocystinurias

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanism of conversion of human apo- to holomethionine synthase by various forms of cobalamin

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12555939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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