Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects (Q38356758)

2 September 2017

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

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2 September 2017

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Christina Hellerud

1

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2 September 2017

Alberto Burlina

2

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2 September 2017

Carlo Gabelli

3

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2 September 2017

James R Ellis

4

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2 September 2017

Per-Georg Nyholm

5

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2 September 2017

Sven Lindstedt

6

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2 September 2017

1 January 2003

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Clinical Chemistry and Laboratory Medicine

2 September 2017

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2 September 2017

41

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2 September 2017

1

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2 September 2017

46-55

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Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III)

2 September 2017

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

The binding of glycerol kinase to the outer membrane of rat liver mitochondria: Its importance in metabolic regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

Structural organization and mapping of the human mitochondrial glycerol phosphate dehydrogenase-encoding gene and pseudogene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

Human glycerol kinase deficiency: An inborn error of compartmental metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

Isolated and contiguous glycerol kinase gene disorders: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

Familial hyperglycerolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

Sites of inhibition of mitochondrial electron transport in macrophage-injured neoplastic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

Isolation of the human Xp21 glycerol kinase gene by positional cloning

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

Nomenclature for the description of human sequence variations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

Structure of the regulatory complex of Escherichia coli IIIGlc with glycerol kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

Glycerol kinase from Escherichia coli and an Ala65-->Thr mutant: the crystal structures reveal conformational changes with implications for allosteric regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

Information content of individual genetic sequences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

Glyceroluria in healthy adults, mentally ill adults and children selected for metabolic screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

A sequence variation in the mitochondrial glycerol-3-phosphate dehydrogenase gene is associated with increased plasma glycerol and free fatty acid concentrations among French Canadians.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2003.009

21 January 2018

Identifiers

DOI

10.1515/CCLM.2003.009

1 reference

2 September 2017

1 reference