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The familial chylomicronemia syndrome
scientific article (publication date: September 1998)
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scholarly article
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review article
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stated in
Europe PubMed Central
title
The familial chylomicronemia syndrome
(English)
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main subject
familial chylomicronemia syndrome
1 reference
based on heuristic
inferred from title
author name string
S Santamarina-Fojo
series ordinal
1
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language of work or name
English
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publication date
September 1998
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published in
Endocrinology and Metabolism Clinics of North America
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volume
27
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page(s)
551-67, viii
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issue
3
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cites work
Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene
1 reference
stated in
Crossref
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7 January 2021
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inferred from DOI database lookup
Relationship between triglyceride-rich lipoprotein (chylomicrons and VLDL) and HDL2 and HDL3 in the post-prandial phase in humans.
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients
1 reference
stated in
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7 January 2021
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inferred from DOI database lookup
Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity
1 reference
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Homology of lipoprotein lipase to pancreatic lipase
1 reference
stated in
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reference URL
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7 January 2021
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inferred from DOI database lookup
Premature Atherosclerosis in Patients with Familial Chylomicronemia Caused by Mutations in the Lipoprotein Lipase Gene
1 reference
stated in
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reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec
1 reference
stated in
Crossref
reference URL
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retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250 ? Asn; Ser251 ? Cys) resulting in lipoprotein lipase (LPL) deficiency
1 reference
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Metabolism of very-low-density lipoprotein triglyceride by human placental cells: the role of lipoprotein lipase
1 reference
stated in
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reference URL
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7 January 2021
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inferred from DOI database lookup
Hypertriglyceridemia Associated with Deficiency of Apolipoprotein C-II
1 reference
stated in
Crossref
reference URL
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7 January 2021
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A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity
1 reference
stated in
Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Heterogeneity of primary lipoprotein lipase deficiency
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Primary type I hyperlipoproteinemia with normal lipoprotein lipase activity
1 reference
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7 January 2021
based on heuristic
inferred from DOI database lookup
Severe hypertriglyceridemia: role of familial and acquired disorders
1 reference
stated in
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Chylomicronemia syndrome in diabetes mellitus.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of apolipoprotein C-IIToronto, a nonfunctional human apolipoprotein
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Apolipoprotein CIISt. Michael. Familial apolipoprotein CII deficiency associated with premature vascular disease
1 reference
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of the mutation responsible for a case of plasmatic apolipoprotein CII deficiency (Apo CII-Bari)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of the human lipoprotein lipase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ethnic variation and in vivo effects of the -93t-->g promoter variant in the lipoprotein lipase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Suppression of amylase activity by hypertriglyceridemia.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Familial lipoprotein lipase and apolipoprotein C-II deficiency. Lipoprotein and apoprotein analysis, adipose tissue and hepatic lipoprotein lipase levels in seven patients and their first degree relatives
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Human apolipoprotein C-II: complete nucleic acid sequence of preapolipoprotein C-II.
1 reference
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Crossref
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7 January 2021
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inferred from DOI database lookup
The human preproapolipoprotein C-II gene
1 reference
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
The localization of the gene for apolipoprotein C-II to chromosome 19
1 reference
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7 January 2021
based on heuristic
inferred from DOI database lookup
A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency
1 reference
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Assessment of French patients with LPL deficiency for French Canadian mutations
1 reference
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Increased prevalence of apolipoprotein E4 in type V hyperlipoproteinemia
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7 January 2021
based on heuristic
inferred from DOI database lookup
Transient lipoprotein lipase deficiency with hyperchylomicronemia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Tissue lipoprotein lipase in normal individuals and in individuals with exogenous hypertriglyceridemia and the relationship of this enzyme to assimilation of fat
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Role of Specific Glycopeptides of Human Serum Lipoproteins in the Activation of Lipoprotein Lipase
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
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1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
A New Mutation Destroying Disulphide Bridging in the C-Terminal Domain of Lipoprotein Lipase
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Abetalipoproteinemia. Report of two cases and review of therapy
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Preparation, characterization, and measurement of lipoprotein lipase
1 reference
stated in
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reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation and sequence of a human apolipoprotein CII cDNA clone and its use to isolate and map to human chromosome 19 the gene for apolipoprotein CII
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Comparison of apolipoprotein C-II-deficient triacylglycerol-rich lipoproteins and trioleoylglycerol/phosphatidylcholine-stabilized particles as substrates for lipoprotein lipase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autoimmune hyperchylomicronemia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Organization of the human lipoprotein lipase gene and evolution of the lipase gene family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Asn-291-->Ser and Ser-477-->Stop mutations of the lipoprotein lipase gene and their significance for lipid metabolism in patients with hypertriglyceridaemia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A heterozygous mutation (the codon for Ser447→ a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Postheparin plasma lipoprotein lipase activity in heterozygotes of familial lipoprotein lipase deficiency
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A specific apoprotein activator for lipoprotein lipase
1 reference
stated in
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reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Diagnosis of Pancreatitis Masked by Hyperlipemia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A missense mutation (Asp250→Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Relationships between the metabolism of high-density and very-low-density lipoproteins in man: studies of apolipoprotein kinetics and adipose tissue lipoprotein lipase activity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial lipoprotein lipase (LPL) deficiency: A catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Effects of apolipoprotein C-II (apoC-II) on the lipolysis of very low density lipoproteins from apoC-II deficient patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial apolipoprotein CII deficiency: plasma lipoproteins and apolipoproteins in heterozygous and homozygous subjects and the effects of plasma infusion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heterozygous lipoprotein lipase deficiency: frequency in the general population, effect on plasma lipid levels, and risk of ischemic heart disease.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hypertriglyceridemia caused by the autoantibody to lipases for plasma lipoproteins: a case report
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence for the chylomicron origin of lipids accumulating in diabetic eruptive xanthomas: a correlative lipid biochemical, histochemical, and electron microscopic study.
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structural features of lipoprotein lipase. Lipase family relationships, binding interactions, non-equivalence of lipase cofactors, vitellogenin similarities and functional subdivision of lipoprotein lipase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary Type I Hyperlipoproteinaemia-A Metabolic and Family Study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Low-density lipoprotein activates the protease region of recombinant apo(a)
1 reference
stated in
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reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Therapeutic response to medium-chain triglycerides and omega-3 fatty acids in a patient with the familial chylomicronemia syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Higher triglycerides, lower high-density lipoprotein cholesterol, and higher systolic blood pressure in lipoprotein lipase-deficient heterozygotes. A preliminary report
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Combined deficiency of apolipoprotein C-II and lipoprotein lipase in familial hyperchylomicronemia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Secondary causes of hyperlipidemia.
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Inhibition of Serum and Urine Amylase Activity in Pancreatitis with Hyperlipemia
1 reference
stated in
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reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotypic heterogeneity in the extended pedigree of a proband with lipoprotein lipase deficiency.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of human pancreatic lipase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human lipoprotein lipase complementary DNA sequence.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
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Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency
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https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
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A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6
retrieved
7 January 2021
based on heuristic
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DOI
10.1016/S0889-8529(05)70025-6
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9785052
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