(Q36590871)

English

Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands

scientific article published on February 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands (English)

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

0 references

Célia Nogueira

object named as

C Nogueira

5

0 references

Esmeralda G. Martins

object named as

E Martins

1

0 references

Anabela Bandeira

object named as

A Bandeira

3

0 references

author name string

A Marcão

2

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

H Fonseca

4

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

L Vilarinho

6

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

publication date

1 February 2012

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Journal of Inherited Metabolic Disorders Reports

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

6

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

107-112

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Hypermethioninemias of genetic and non-genetic origin: A review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565625

9 September 2017

The homocysteine controversy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565625

9 September 2017

Inherited disorders in the conversion of methionine to homocysteine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565625

9 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565625

9 September 2017

Molecular genetics of hepatic methionine adenosyltransferase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565625

9 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565625

9 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565625

9 September 2017

Four years of expanded newborn screening in Portugal with tandem mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565625

20 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565625

20 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565625

20 September 2018

Spectrum of hypermethioninemia in neonatal screening.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565625

20 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565625

20 September 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565625

20 September 2018

Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/8904_2011_124

1 reference

https://api.fatcat.wiki/v0/release/3plaihwouvg7ncai4z3ejdcjvq

30 July 2022

based on heuristic

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release_3plaihwouvg7ncai4z3ejdcjvq

1 reference

https://api.fatcat.wiki/v0/release/3plaihwouvg7ncai4z3ejdcjvq

30 July 2022

based on heuristic

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PMC publication ID

1 reference

https://api.fatcat.wiki/v0/release/3plaihwouvg7ncai4z3ejdcjvq

30 July 2022

based on heuristic

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PubMed publication ID

1 reference

https://api.fatcat.wiki/v0/release/3plaihwouvg7ncai4z3ejdcjvq

30 July 2022

based on heuristic

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