(Q24317063)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651297%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

Mutations and phenotype in isolated glycerol kinase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651297%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

GOA release 2020-03-11

glycerol-3-phosphate biosynthetic process

1 reference

glycerol kinase deficiency

GOA release 2020-03-11

1 reference

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651297%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

author name string

Walker AP

1

1 reference

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16 October 2019

Stafford AN

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651297%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Chelly J

4

1 reference

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16 October 2019

Dahl N

5

1 reference

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16 October 2019

Blomquist HK

6

1 reference

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16 October 2019

Delanghe J

7

1 reference

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16 October 2019

Willems PJ

8

1 reference

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16 October 2019

Steinmann B

9

1 reference

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16 October 2019

Monaco AP

10

1 reference

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16 October 2019

language of work or name

English

0 references

publication date

1 June 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651297%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

16 October 2019

published in

1 reference

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16 October 2019

volume

58

1 reference

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16 October 2019

issue

6

1 reference

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16 October 2019

page(s)

1205-1211

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651297%20AND%20SRC:MED&resulttype=core&format=json

Isolation of the human Xp21 glycerol kinase gene by positional cloning

16 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

A catalogue of splice junction sequences

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

Transcription of the dystrophin gene in human muscle and non-muscle tissue

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

Dissociation kinetics of 19 base paired oligonucleotide-DNA duplexes containing different single mismatched base pairs

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

Illegitimate transcription: transcription of any gene in any cell type

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

Familial hyperglycerolemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

Deficiency of glycerol kinase (EC 2.7.1.30)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

Mental retardation locus in Xp21 chromosome microdeletion

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

Isolated glycerol kinase deficiency in a neonate.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915081

Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities

29 November 2018

1 reference

12 December 2020

'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency

1 reference

12 December 2020

A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor

1 reference

12 December 2020

Liver glycerokinase deficiency in man with hyperglycerolaemia and hypertriglyceridaemia

1 reference

12 December 2020

Pseudo-Hypertriglyceridämie bei Glycerokinase-Mangel

1 reference

12 December 2020

Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency

1 reference

12 December 2020

Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome

1 reference

12 December 2020

Nonsense mutations and diminished mRNA levels

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651297%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

PubMed publication ID

8651297

1 reference