Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme. (Q46578215)

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scientific article published on 20 May 2008

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English	Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.	scientific article published on 20 May 2008

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scholarly article

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7 January 2020

Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme (English)

1 reference

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7 January 2020

1

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7 January 2020

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7 January 2020

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7 January 2020

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S H Mudd

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7 January 2020

author name string

M D Bóveda

2

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7 January 2020

D E Castiñeiras

3

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7 January 2020

F J Corrales

4

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7 January 2020

publication date

20 May 2008

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7 January 2020

Journal of Inherited Metabolic Disease

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7 January 2020

31 Suppl 2

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7 January 2020

S233-9

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7 January 2020

https://scigraph.springernature.com/pub.10.1007/s10545-008-0811-3

0 references

Persistent hypermethioninaemia with dominant inheritance.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0811-3

21 January 2018

Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0811-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0811-3

21 January 2018

Spectrum of hypermethioninemia in neonatal screening.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0811-3

21 January 2018

Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0811-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0811-3

21 January 2018

Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0811-3

21 January 2018

Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0811-3

21 January 2018

Isolated hypermethioninemia: measurements of S-adenosylmethionine and choline.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0811-3

21 January 2018

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0811-3

21 January 2018

Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0811-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0811-3

21 January 2018

High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0811-3

21 January 2018

Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0811-3

21 January 2018

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0811-3

21 January 2018

Biochemical basis for the dominant inheritance of hypermethioninemia associated with the R264H mutation of the MAT1A gene. A monomeric methionine adenosyltransferase with tripolyphosphatase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/18500573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/18500573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reversible white matter lesion in methionine adenosyltransferase I/III deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18500573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolated persistent hypermethioninemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18500573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characteristic MR imaging changes in severe hypermethioninemic states.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18500573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic analysis of isolated persistent hypermethioninemia with dominant inheritance.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18500573

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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