(Q38352655)

English

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.

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5 November 2019

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis (English)

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5 November 2019

glycerol kinase deficiency

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Dorota Jurkiewicz

3

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5 November 2019

Elżbieta Ciara

6

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5 November 2019

10

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5 November 2019

7

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Ewa Popowska

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5 November 2019

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Christina Hellerud

1

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5 November 2019

Maciej Adamowicz

2

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5 November 2019

Joanna Taybert

4

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5 November 2019

Jolanta Kubalska

5

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5 November 2019

James R Ellis

8

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5 November 2019

Sven Lindstedt

9

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5 November 2019

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1 July 2003

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5 November 2019

Molecular Genetics and Metabolism

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5 November 2019

79

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5 November 2019

149-159

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5 November 2019

3

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5 November 2019

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

1 reference

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7 January 2021

based on heuristic

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Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900094-5

7 January 2021

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Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900094-5

7 January 2021

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Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900094-5

7 January 2021

based on heuristic

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Isolated and contiguous glycerol kinase gene disorders: a review

1 reference

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7 January 2021

based on heuristic

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

1 reference

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7 January 2021

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Gene deletion causing adrenal hypoplasia congenita and hypogonadotrophic hypogonadism

1 reference

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7 January 2021

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Dysmorphic features in patients with complex glycerol kinase deficiency

1 reference

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7 January 2021

based on heuristic

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Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900094-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900094-5

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900094-5

7 January 2021

based on heuristic

inferred from DOI database lookup

AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900094-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900094-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900094-5

7 January 2021

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A new principle for the assay of metabolites involving the combined effects of isotope dilution and enzymatic catalysis

1 reference

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7 January 2021

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Nomenclature for the description of human sequence variations.

1 reference

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7 January 2021

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New DNA diagnostic system for detection of factor V Leiden

1 reference

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7 January 2021

based on heuristic

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Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900094-5

7 January 2021

based on heuristic

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Sequence walkers: a graphical method to display how binding proteins interact with DNA or RNA sequences

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900094-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Information content of individual genetic sequences.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900094-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Glycerol kinase deficiency: evidence for complexity in a single gene disorder

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900094-5

7 January 2021

based on heuristic

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A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci

1 reference

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Nonsense-mediated mRNA decay in health and disease

1 reference

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7 January 2021

based on heuristic

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Asthma as the First Presenting Symptom of Complex Glycerol Kinase Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900094-5

7 January 2021

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Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency.

1 reference

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7 January 2021

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Fructose-1,6-diphosphatase deficiency and glyceroluria: one possible etiology for GIS.

1 reference

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Consequences of complexity within biological networks: robustness and health, or vulnerability and disease

1 reference

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Identifiers

10.1016/S1096-7192(03)00094-5

1 reference

Europe PubMed Central

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5 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12855219%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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