CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families (Q28205877)

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scientific article (publication date: October 2002)

Language	Label	Description	Also known as
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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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

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

12 December 2020

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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

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

12 December 2020

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

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

12 December 2020

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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.

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

12 December 2020

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The methylcobalamin metabolism of cultured human fibroblasts

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

12 December 2020

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

12 December 2020

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

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

12 December 2020

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

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

12 December 2020

based on heuristic

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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

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

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

12 December 2020

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

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

12 December 2020

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

1 reference

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

12 December 2020

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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

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

12 December 2020

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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

1 reference

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

12 December 2020

based on heuristic

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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

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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

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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

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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

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Post- and prenatal diagnostic methods for the homocystinurias

1 reference

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

12 December 2020

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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

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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

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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

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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

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