(Q39642408)

13 September 2017

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. (English)

1 reference

CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

13 September 2017

corrigendum / erratum

1 reference

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1038/GIM.2017.232

author

Curtis R Coughlin Ii

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Michael A Swanson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Marja-Leena Väisänen

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Elaine Spector

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Ana M Brás-Goldberg

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Elisa Rahikkala

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Jukka S Moilanen

12

1 reference

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9 June 2020

Gert Matthijs

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Irene Bravo-Alonso

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Kathryn Kronquist

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Cécile Acquaviva

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Tim Hutchin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Pilar Rodríguez-Pombo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Geralyn Creadon-Swindell

9

1 reference

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9 June 2020

Vincent Mahieu

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Celia Pérez-Cerdá

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Magdalena Ugarte

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Christine Vianey-Saban

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Gunter H Scharer

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Johan L K Van Hove

20

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9 June 2020

language of work or name

English

0 references

publication date

30 June 2016

1 reference

13 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27362913%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

104-111

1 reference

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9 June 2020

issue

1

1 reference

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https://scigraph.springernature.com/pub.10.1038/gim.2016.74

9 June 2020

exact match

0 references

cites work

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Natural history of nonketotic hyperglycinemia in 65 patients

21 January 2018

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

21 January 2018

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Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

21 January 2018

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Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation

21 January 2018

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Nonketotic hyperglycinemia in a patient with the 9p- syndrome

21 January 2018

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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

21 January 2018

1 reference

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

21 January 2018

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Biochemical and molecular investigations of patients with nonketotic hyperglycinemia

21 January 2018

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Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia

21 January 2018

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Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis

21 January 2018

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

21 January 2018

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Structure and chromosomal localization of the aminomethyltransferase gene (AMT)

21 January 2018

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Large-scale TUBB4A mutational screening in isolated dystonia and controls

21 January 2018

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Structure of the Homodimeric Glycine Decarboxylase P-protein from Synechocystis sp. PCC 6803 Suggests a Mechanism for Redox Regulation

21 January 2018

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

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

21 January 2018

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21 January 2018

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

21 January 2018

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Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

21 January 2018

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Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia

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21 January 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/27362913

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Assignment of the true and processed genes for human glycine decarboxylase to 9p23-24 and 4q12

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27362913