(Q53628331)

16 May 2018

title

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

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16 May 2018

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C Conter

1

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16 May 2018

M O Rolland

2

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16 May 2018

D Cheillan

3

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16 May 2018

V Bonnet

4

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16 May 2018

I Maire

5

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16 May 2018

R Froissart

6

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16 May 2018

publication date

1 February 2006

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16 May 2018

Journal of Inherited Metabolic Disease

published in

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16 May 2018

volume

29

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16 May 2018

issue

1

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16 May 2018

page(s)

135-142

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16 May 2018

https://scigraph.springernature.com/pub.10.1007/s10545-006-0202-6

exact match

0 references

cites work

A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia

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12 December 2020

Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH)

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12 December 2020

A decrease in glycine cleavage activity in the liver of a patient with dihydrolipoyl dehydrogenase deficiency

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12 December 2020

Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

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12 December 2020

Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.

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12 December 2020

Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia

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12 December 2020

Biochemical and molecular investigations of patients with nonketotic hyperglycinemia

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Denaturing high-performance liquid chromatography: A review

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12 December 2020

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

1 reference

12 December 2020

Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update

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12 December 2020

Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients

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12 December 2020

Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts

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12 December 2020

10.1007/S10545-006-0202-6

Identifiers

DOI

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16 May 2018

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16 May 2018