(Q73111097)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9050773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9050773%20AND%20SRC:MED&resulttype=core&format=json

hyperlipidemia due to hepatic triglyceride lipase deficiency

1 November 2019

main subject

1 reference

1 reference

3

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1 November 2019

Marja-Riitta Taskinen

10

1 reference

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1 November 2019

author name string

P Knudsen

1

1 reference

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1 November 2019

M Antikainen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9050773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

S Ehnholm

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9050773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

S Lahdenperä

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9050773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

A Bensadoun

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9050773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

H Funke

7

1 reference

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1 November 2019

H Wiebusch

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9050773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

G Assmann

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9050773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

C Ehnholm

11

1 reference

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1 November 2019

publication date

1 February 1997

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1 November 2019

1 reference

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1 November 2019

volume

128

1 reference

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1 November 2019

page(s)

165-174

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1 November 2019

issue

2

1 reference

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Preparation, characterization, and measurement of hepatic lipase

1 November 2019

cites work

1 reference

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Enzymes involved in triglyceride hydrolysis

7 January 2021

1 reference

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Genetics and molecular biology of hepatic lipase

7 January 2021

1 reference

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On the metabolic function of heparin-releasable liver lipase

7 January 2021

1 reference

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Cholesteryl ester transfer protein and hepatic lipase activity promote shedding of apo A-I from HDL and subsequent formation of discoidal HDL

7 January 2021

1 reference

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Hepatic lipase promotes a loss of apolipoprotein A-I from triglyceride-enriched human high density lipoproteins during incubation in vitro

7 January 2021

1 reference

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Early incorporation of cell-derived cholesterol into pre-beta-migrating high-density lipoprotein

7 January 2021

1 reference

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Mechanism of the hepatic lipase induced accumulation of high-density lipoprotein cholesterol by cells in culture

7 January 2021

1 reference

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Accumulation of intermediate density lipoprotein in plasma after intravenous administration of hepatic triglyceride lipase antibody in rats

7 January 2021

1 reference

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Lipoprotein metabolism during acute inhibition of hepatic triglyceride lipase in the cynomolgus monkey

7 January 2021

1 reference

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Overexpression of hepatic lipase in transgenic rabbits leads to a marked reduction of plasma high density lipoproteins and intermediate density lipoproteins

7 January 2021

1 reference

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Mild dyslipidemia in mice following targeted inactivation of the hepatic lipase gene

7 January 2021

1 reference

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Enrichment of apolipoprotein B-48 in the LDL density class following in vivo inhibition of hepatic lipase

7 January 2021

1 reference

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Hepatic lipase gene therapy in hepatic lipase-deficient mice. Adenovirus-mediated replacement of a lipolytic enzyme to the vascular endothelium

7 January 2021

1 reference

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Deficiency of hepatic lipase activity in post-heparin plasma in familial hyper-alpha-triglyceridemia.

7 January 2021

1 reference

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A hepatic lipase gene mutation associated with heritable lipolytic deficiency

7 January 2021

1 reference

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Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics

7 January 2021

1 reference

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Structure of the human hepatic triglyceride lipase gene

7 January 2021

1 reference

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Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations

7 January 2021

1 reference

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Sandwich immunoassay for measurement of human hepatic lipase

7 January 2021

1 reference

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[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

7 January 2021

1 reference

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Deoxynucleoside phosphoramidites—A new class of key intermediates for deoxypolynucleotide synthesis

7 January 2021

1 reference

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A novel polymorphism of apolipoprotein A-IV is the result of an asparagine to serine substitution at residue 127

7 January 2021

1 reference

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

7 January 2021

1 reference

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Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing

7 January 2021

1 reference

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Optimal conditions for directly sequencing double-stranded PCR products with sequenase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905999-0

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905999-0

The rapid generation of oligonucleotide-directed mutations at high frequency using phosphorothioate-modified DNA.

7 January 2021

1 reference

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Lipofection: a highly efficient, lipid-mediated DNA-transfection procedure

7 January 2021

1 reference

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Expression of recombinant soluble and membrane-bound catechol O-methyltransferase in eukaryotic cells and identification of the respective enzymes in rat brain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905999-0

THE DISTRIBUTION AND CHEMICAL COMPOSITION OF ULTRACENTRIFUGALLY SEPARATED LIPOPROTEINS IN HUMAN SERUM

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905999-0

Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905999-0

Regulation of hepatic lipase and serum lipoproteins by sex steroids

7 January 2021

1 reference

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Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase

7 January 2021

1 reference

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Plasma lipoproteins in familial hepatic lipase deficiency

7 January 2021

1 reference

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Plasma-high-density-lipoprotein concentration and development of ischaemic heart-disease

7 January 2021

1 reference

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High density and low density lipoprotein subfractions in survivors of myocardial infarction and in control subjects

7 January 2021

1 reference

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The Tromsø heart-study. High-density lipoprotein and coronary heart-disease: a prospective case-control study

7 January 2021

1 reference

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High density lipoprotein as a protective factor against coronary heart disease. The Framingham Study

7 January 2021

1 reference

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Chylomicron-remnant uptake by freshly isolated hepatocytes. Effect of heparin and of hepatic triacylglycerol lipase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905999-0

Inhibition of hepatic lipase activity impairs chylomicron remnant-removal in rats

7 January 2021

1 reference

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10.1016/S0021-9150(96)05999-0

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9050773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference