Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy (Q48535330)

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scientific article published on 18 September 2014

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English	Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy	scientific article published on 18 September 2014

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy (English)

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

author name string

Nor Azimah Abdul Azize

1

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

Wan Zurinah Wan Ngah

2

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

Zulhabri Othman

3

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

Norsiah Md Desa

4

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

Chen Bee Chin

5

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

Zabedah Md Yunus

6

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

Anand Mohan

7

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

Teh Siao Hean

8

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

Syed Zulkifli Syed Zakaria

9

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

Ngu Lock-Hock

10

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

publication date

18 September 2014

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

59

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

11

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

593-597

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

Structure and expression of the glycine cleavage system in rat central nervous system

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.69

21 January 2018

Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.69

21 January 2018

Natural history of nonketotic hyperglycinemia in 65 patients

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.69

21 January 2018

Prediction of long-term outcome in glycine encephalopathy: a clinical survey.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.69

21 January 2018

Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.69

21 January 2018

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.69

21 January 2018

Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.69

21 January 2018

Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.69

21 January 2018

A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.69

21 January 2018

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.69

21 January 2018

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.69

21 January 2018

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.69

21 January 2018

Pitfalls in measuring cerebrospinal fluid glycine levels in infants with encephalopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.69

21 January 2018

Nonketotic hyperglycinemia presenting as pulmonary hypertensive vascular disease and fatal pulmonary edema in response to pulmonary vasodilator therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/25231368

12 December 2020

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Identifiers

10.1038/JHG.2014.69

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/25231368

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