(Q33889332)

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Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8432854%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8432854%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

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based on heuristic

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1 reference

based on heuristic

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1 reference

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Gero Miesenböck

1

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8432854%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

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B Hölzl

2

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12 October 2019

B Föger

3

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12 October 2019

E Brandstätter

4

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12 October 2019

B Paulweber

5

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12 October 2019

F Sandhofer

6

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12 October 2019

J R Patsch

7

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12 October 2019

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publication date

1 February 1993

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12 October 2019

Journal of Clinical Investigation

1 reference

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12 October 2019

91

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12 October 2019

2

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12 October 2019

448-455

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8432854%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

Protein measurement with the Folin phenol reagent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Lipolytic enzymes and plasma lipoprotein metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Transfers and exchanges of esterified cholesterol between plasma lipoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Metabolism of apolipoproteins B-48 and B-100 of triglyceride-rich lipoproteins in normal and lipoprotein lipase-deficient humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Postprandial lipemia. A key for the conversion of high density lipoprotein2 into high density lipoprotein3 by hepatic lipase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Inverse relationship between blood levels of high density lipoprotein subfraction 2 and magnitude of postprandial lipemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Abnormalities in very low, low and high density lipoproteins in hypertriglyceridemia. Reversal toward normal with bezafibrate treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Improved estimation of cholesteryl ester transfer/exchange activity in serum or plasma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Human lipoprotein lipase complementary DNA sequence.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

High density lipoprotein2. Relationship of the plasma levels of this lipoprotein species to its composition, to the magnitude of postprandial lipemia, and to the activities of lipoprotein lipase and hepatic lipase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Dietary fat clearance in normal subjects is regulated by genetic variation in apolipoprotein E.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Different patterns of postprandial lipoprotein metabolism in normal, type IIa, type III, and type IV hyperlipoproteinemic individuals. Effects of treatment with cholestyramine and gemfibrozil

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Low-Density Lipoprotein Subclass Patterns and Risk of Myocardial Infarction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Lipoprotein metabolism in hepatic lipase deficiency: studies on the turnover of apolipoprotein B and on the effect of hepatic lipase on high density lipoprotein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Inheritance of low-density lipoprotein subclass patterns: results of complex segregation analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Structure of the human lipoprotein lipase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Lipoprotein lipase. A multifunctional enzyme relevant to common metabolic diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Defective enzyme protein in lipoprotein lipase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Inheritance of low density lipoprotein subclass patterns in familial combined hyperlipidemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Postprandial plasma vitamin A metabolism in humans: a reassessment of the use of plasma retinyl esters as markers for intestinally derived chylomicrons and their remnants.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Chylomicron-retinyl palmitate clearance in type I hyperlipidemic families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Mechanism of plasma cholesteryl ester transfer in hypertriglyceridemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Linkage of atherogenic lipoprotein phenotype to the low density lipoprotein receptor locus on the short arm of chromosome 19

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

In vitro production of human plasma low density lipoprotein-like particles. A model for very low density lipoprotein catabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Lipoprotein of the Density 1. 006–1. 020 in the Plasma of Patients with Type III Hyperlipoproteinaemia in the Postabsorptive State

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

28 July 2018

Phosphorus assay in column chromatography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

29 October 2018

Inter-relationship of lipids transferred by the lipid-transfer protein isolated from human lipoprotein-deficient plasma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

29 October 2018

Atherogenic lipoprotein phenotype. A proposed genetic marker for coronary heart disease risk.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=287952

29 October 2018

Separation of the main lipoprotein density classes from human plasma by rate-zonal ultracentrifugation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8432854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and characterization of human plasma lipid transfer proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/8432854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection and characterization of the heterozygote state for lipoprotein lipase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8432854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma clearance of chylomicrons labeled with retinyl palmitate in healthy human subjects

1 reference

https://pubmed.ncbi.nlm.nih.gov/8432854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is hypertriglyceridemic very low density lipoprotein a precursor of normal low density lipoprotein?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8432854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma lipid transfer proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/8432854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nondenaturing polyacrylamide gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8432854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Zonal ultracentrifugation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8432854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of human high-density lipoproteins by gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8432854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8432854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI116222

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8432854%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8432854%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8432854%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

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