Folate‐responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease) (Q41926735)

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scientific article published on November 1, 1997

Language	Label	Description	Also known as
English	Folate‐responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease)	scientific article published on November 1, 1997

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

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

reason for preferred rank

most precise value

1 reference

10.1023/A:1005372730310

https://api.crossref.org/works/10.1023/A:1005372730310

1 December 2024

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9427140

1 December 2024

Arakawa's syndrome II

1 reference

based on heuristic

inferred from title

methylcobalamin deficiency type cblG

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

B. Fowler

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9427140

1 December 2024

R. B. Schutgens

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9427140

1 December 2024

D. S. Rosenblatt

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9427140

1 December 2024

G. P. Smit

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9427140

1 December 2024

J. Lindemans

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9427140

1 December 2024

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9427140

1 December 2024

publication date

1 November 1997

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

November 1997

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9427140

1 December 2024

full work available at URL

https://repub.eur.nl/pub/59148/art-3A10.1023-2FA-3A1005372730310.pdf

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9427140

1 December 2024

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1023%2FA%3A1005372730310

1 reference

10.1023/A:1005372730310

https://api.crossref.org/works/10.1023/A:1005372730310

1 December 2024

https://onlinelibrary.wiley.com/doi/pdf/10.1023/A%3A1005372730310

1 reference

10.1023/A:1005372730310

https://api.crossref.org/works/10.1023/A:1005372730310

1 December 2024

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

20

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

731-741

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

Cobalamin-dependent methionine synthase

2 references

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

https://api.crossref.org/works/10.1023%2FA%3A1005372730310

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

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/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Stability of folic acid activity in serum

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

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/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cobalamin inactivation decreases purine and methionine synthesis in cultured lymphoblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

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/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Vitamin B12-responsive megaloblastic anemia, homocystinuria, and transient methylmalonic aciduria in cb1E disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Orotic aciduria, homocystinuria, formiminoglutamic aciduria and megaloblastosis associated with the formiminotransferase/cyclodeaminase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cobalamin-folate interrelations

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A method for the determination of formiminoglutamic acid in urine

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lack of dihydrofolate reductase activity in brain tissue of mammalian species: possible implications

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

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/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vitro conversion of formate to serine: effect of tetrahydropteroylpolyglutamates and serine hydroxymethyltransferase on the rate of 10-formyltetrahydrofolate synthetase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Function of vitamin B12 in the central nervous system as revealed by congenital defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The need for a sufficient number of low level sera in comparisons of different serum vitamin B12 assays

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The measurement of serum pyridoxal by a microbiological assay using Lactobacillus casei

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and kinetic mechanism of a mammalian methionine synthase from pig liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

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/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transsulphuration and methylation of homocysteine in control and mutant human fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of folic acid coenzyme distribution patterns in patients with methylenetetrahydrofolate reductase and methionine synthetase deficiencies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and characterization of methionine synthetase from human placenta.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

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/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved distribution analysis of cobalamins and cobalamin analogues in human plasma in which the use of thiol-blocking agents is a prerequisite

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Folic acid non-dependent formiminoglutamic aciduria in two siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein measurement with the Folin phenol reagent

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

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/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

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/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vitro inactivation of methionine synthase by nitrous oxide

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway

1 reference

https://pubmed.ncbi.nlm.nih.gov/9427140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1005372730310

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

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