(Q40800636)

23 September 2017

title

Novel compound heterozygous LIAS mutations cause glycine encephalopathy (English)

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23 September 2017

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1

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23 September 2017

Hirotomo Saitsu

7

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author name string

Ryuta Tanaka

2

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23 September 2017

Shino Shimada

3

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23 September 2017

Keiko Shimojima

4

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23 September 2017

Masaaki Shiina

5

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23 September 2017

Mitsuko Nakashima

6

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23 September 2017

Noriko Miyake

8

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23 September 2017

Kazuhiro Ogata

9

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23 September 2017

Toshiyuki Yamamoto

10

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23 September 2017

Naomichi Matsumoto

11

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23 September 2017

publication date

25 June 2015

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Journal of Human Genetics

23 September 2017

published in

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23 September 2017

volume

60

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23 September 2017

issue

10

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23 September 2017

page(s)

631-635

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https://scigraph.springernature.com/pub.10.1038/jhg.2015.72

23 September 2017

exact match

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cites work

Late-onset nonketotic hyperglycinemia with a heterozygous novel point mutation of the GLDC gene.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.72

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.72

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.72

Characteristic MRI findings in neonatal nonketotic hyperglycinemia due to sequence changes in GLDC gene encoding the enzyme glycine decarboxylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.72

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.72

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.72

Lipoic acid biosynthesis defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.72

De novo SOX11 mutations cause Coffin-Siris syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.72

Structures of lipoyl synthase reveal a compact active site for controlling sequential sulfur insertion reactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.72

Protein structure prediction on the Web: a case study using the Phyre server

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.72

Endogenous production of lipoic acid is essential for mouse development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.72

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.72

The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26108146

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/JHG.2015.72

1 reference

23 September 2017

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