Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia). (Q44070471)

29 November 2017

title

Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia). (English)

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29 November 2017

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glycine encephalopathy

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Jennifer R Toone

1

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29 November 2017

Derek A Applegarth

2

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29 November 2017

Shigeo Kure

3

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29 November 2017

Marion B Coulter-Mackie

4

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29 November 2017

Payam Sazegar

5

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29 November 2017

Kanako Kojima

6

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29 November 2017

Akiko Ichinohe

7

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29 November 2017

publication date

1 July 2002

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Molecular Genetics and Metabolism

29 November 2017

published in

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29 November 2017

volume

76

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29 November 2017

issue

3

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29 November 2017

page(s)

243-249

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Non-ketotic hyperglycinaemia: molecular lesion, diagnosis and pathophysiology

29 November 2017

cites work

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900041-0

7 January 2021

Biochemical and molecular investigations of patients with nonketotic hyperglycinemia

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900041-0

7 January 2021

Progressive neurodegenerative disorder in a patient with nonketotic hyperglycinemia

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900041-0

7 January 2021

Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900041-0

7 January 2021

Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900041-0

7 January 2021

Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900041-0

7 January 2021

Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900041-0

7 January 2021

Prenatal diagnosis of nonketotic hyperglycinemia: enzymatic analysis of the glycine cleavage system in chorionic villi

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900041-0

7 January 2021

Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant

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7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900041-0

7 January 2021

Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900041-0

7 January 2021

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900041-0

7 January 2021

Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900041-0

7 January 2021

10.1016/S1096-7192(02)00041-0

Identifiers

DOI

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29 November 2017

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