Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia (Q34094719)

31 July 2017

title

Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia (English)

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glycine N-methyltransferase deficiency

31 July 2017

main subject

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author name string

Mudd SH

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31 July 2017

Cerone R

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31 July 2017

Schiaffino MC

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31 July 2017

Fantasia AR

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31 July 2017

Minniti G

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31 July 2017

Caruso U

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31 July 2017

Lorini R

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31 July 2017

Watkins D

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31 July 2017

Matiaszuk N

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31 July 2017

Rosenblatt DS

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31 July 2017

Schwahn B

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31 July 2017

Rozen R

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31 July 2017

LeGros L

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31 July 2017

Kotb M

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31 July 2017

Capdevila A

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31 July 2017

Luka Z

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31 July 2017

Finkelstein JD

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31 July 2017

Tangerman A

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31 July 2017

Stabler SP

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31 July 2017

Allen RH

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31 July 2017

Wagner C

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31 July 2017

publication date

1 August 2001

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Journal of Inherited Metabolic Disease

31 July 2017

published in

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31 July 2017

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31 July 2017

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31 July 2017

page(s)

448-464

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Transamination of methionine in humans

31 July 2017

cites work

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12 December 2020

Purification and properties of glycine N-methyltransferase from rat liver

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12 December 2020

Modulation of tRNA methyltransferase activity by competing enzyme systems

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12 December 2020

Plasma and serum total homocysteine concentrations in paediatric patients, evaluated by high-performance liquid chromatography with fluorescence

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12 December 2020

Inhibition of glycine N-methyltransferase by 5-methyltetrahydrofolate pentaglutamate

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12 December 2020

Effect of methionine loading on 5-methyltetrahydrofolate, S-adenosylmethionine and S-adenosylhomocysteine in plasma of healthy humans

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12 December 2020

Methionine adenosyltransferase: structure and function

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12 December 2020

Hypermethioninemia associated with methionine adenosyltransferase deficiency: Clinical, morphologic, and biochemical observations on four patients

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12 December 2020

Labile methyl group balances in the human: The role of sarcosine

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12 December 2020

Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism

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12 December 2020

Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations

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12 December 2020

Choline and human nutrition.

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12 December 2020

A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity

1 reference

12 December 2020

Feedback inhibition of methylene-tetrahydrofolate reductase in rat liver by S-adenosylmethionine

1 reference

12 December 2020

Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.

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12 December 2020

Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III.

1 reference

12 December 2020

The role of transamination in methionine oxidation in the rat

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12 December 2020

Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man

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12 December 2020

Plasma amino-acid patterns in liver disease

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12 December 2020

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

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12 December 2020

[Still another cause of hypermethioninemia in children: S-adenosylmethionine synthetase deficiency]

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12 December 2020

3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease

1 reference

12 December 2020

Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency

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12 December 2020

Simultaneous measurement of endogenous and deuterium-labeled tracer variants of choline and acetylcholine in subpicomole quantities by gas chromatography/mass spectrometry

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12 December 2020

Competing methyltransferase systems

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12 December 2020

Sulphur amino acid pattern in chronic liver disease.

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12 December 2020

Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency

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12 December 2020

Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes

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12 December 2020

Tissue distribution of glycine N-methyltransferase, a major folate-binding protein of liver

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12 December 2020

Isolated persistent hypermethioninemia.

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12 December 2020

Isolated hypermethioninemia: measurements of S-adenosylmethionine and choline

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12 December 2020

Free amino acids in plasma and skeletal muscle of patients with liver cirrhosis

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12 December 2020

Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria

1 reference

12 December 2020

Guanidinoacetate methyltransferase deficiency: New clinical features

1 reference

12 December 2020

Purification and characterization of glycine N-methyltransferase

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12 December 2020

Measurement of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent isoindoles

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12 December 2020

On the Mechanism of Induction of Hepatic Adenosine Triphosphate Deficiency by Ethionine

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12 December 2020

Folate deficiency inhibits pancreatic amylase secretion in rats

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12 December 2020

Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.

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12 December 2020

Genomic structure, expression, and chromosomal localization of the human glycine N-methyltransferase gene

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12 December 2020

Disruption of the murine gene encoding phosphatidylethanolamine N -methyltransferase

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12 December 2020

Purification and properties of pancreatic glycine N-methyltransferase

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12 December 2020

Specific loss of the high-molecular-weight form of S-adenosyl-L-methionine synthetase in human liver cirrhosis

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12 December 2020

Induction of rat liver glycine methyltransferase by high methionine diet

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12 December 2020

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect.

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12 December 2020

Allosteric inhibition of methylenetetrahydrofolate reductase by adenosylmethionine. Effects of adenosylmethionine and NADPH on the equilibrium between active and inactive forms of the enzyme and on the kinetics of approach to equilibrium

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12 December 2020

Consensus nomenclature for the mammalian methionine adenosyltransferase genes and gene products

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12 December 2020

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

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12 December 2020

Hepatic methionine adenosyltransferase deficiency in a 31-year-old man.

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12 December 2020

Cloning, expression, and functional characterization of the beta regulatory subunit of human methionine adenosyltransferase (MAT II)

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12 December 2020

Evidence for S-adenosylmethionine independent catabolism of methionine in the rat

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12 December 2020

Pathogenesis of methionine-induced toxicity

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12 December 2020

Biochemical and evolutionary significance of phospholipid methylation

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12 December 2020

Labile methyl balances for normal humans on various dietary regimens

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12 December 2020

Creatine deficiency in the brain: a new, treatable inborn error of metabolism

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12 December 2020

Plasma choline: its turnover and exchange with brain choline

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12 December 2020

Pathways and regulation of homocysteine metabolism in mammals

1 reference

12 December 2020

Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1010577512912

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1010577512912

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Dimensions Publication ID

31 July 2017

1036557377

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