(Q28286373)

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The familial chylomicronemia syndrome

scientific article (publication date: September 1998)

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Europe PubMed Central

The familial chylomicronemia syndrome (English)

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familial chylomicronemia syndrome

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S Santamarina-Fojo

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publication date

September 1998

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Endocrinology and Metabolism Clinics of North America

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27

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3

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551-67, viii

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Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene

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Relationship between triglyceride-rich lipoprotein (chylomicrons and VLDL) and HDL2 and HDL3 in the post-prandial phase in humans

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Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients

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Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity

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Homology of lipoprotein lipase to pancreatic lipase

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Premature Atherosclerosis in Patients with Familial Chylomicronemia Caused by Mutations in the Lipoprotein Lipase Gene

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Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec

1 reference

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Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250 ? Asn; Ser251 ? Cys) resulting in lipoprotein lipase (LPL) deficiency

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Metabolism of very-low-density lipoprotein triglyceride by human placental cells: the role of lipoprotein lipase

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Hypertriglyceridemia Associated with Deficiency of Apolipoprotein C-II

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A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity

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Heterogeneity of primary lipoprotein lipase deficiency

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Primary type I hyperlipoproteinemia with normal lipoprotein lipase activity

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Severe hypertriglyceridemia: role of familial and acquired disorders

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Chylomicronemia syndrome in diabetes mellitus

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Structure of apolipoprotein C-IIToronto, a nonfunctional human apolipoprotein

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Apolipoprotein CIISt. Michael. Familial apolipoprotein CII deficiency associated with premature vascular disease

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Identification of the mutation responsible for a case of plasmatic apolipoprotein CII deficiency (Apo CII-Bari)

1 reference

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Structure of the human lipoprotein lipase gene

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Ethnic variation and in vivo effects of the -93t-->g promoter variant in the lipoprotein lipase gene

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Suppression of amylase activity by hypertriglyceridemia

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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

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Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency

1 reference

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Human apolipoprotein C-II: complete nucleic acid sequence of preapolipoprotein C-II.

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The human preproapolipoprotein C-II gene

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The localization of the gene for apolipoprotein C-II to chromosome 19

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A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency

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A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry

1 reference

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Assessment of French patients with LPL deficiency for French Canadian mutations

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Increased prevalence of apolipoprotein E4 in type V hyperlipoproteinemia

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Transient lipoprotein lipase deficiency with hyperchylomicronemia

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Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency

1 reference

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A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency

1 reference

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Tissue lipoprotein lipase in normal individuals and in individuals with exogenous hypertriglyceridemia and the relationship of this enzyme to assimilation of fat

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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

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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)

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Role of Specific Glycopeptides of Human Serum Lipoproteins in the Activation of Lipoprotein Lipase

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Phenotypic variation of mutations in the human lipoprotein-lipase gene

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A New Mutation Destroying Disulphide Bridging in the C-Terminal Domain of Lipoprotein Lipase

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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

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Abetalipoproteinemia. Report of two cases and review of therapy

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Preparation, characterization, and measurement of lipoprotein lipase

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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

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Comparison of apolipoprotein C-II-deficient triacylglycerol-rich lipoproteins and trioleoylglycerol/phosphatidylcholine-stabilized particles as substrates for lipoprotein lipase

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Autoimmune hyperchylomicronemia

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Organization of the human lipoprotein lipase gene and evolution of the lipase gene family

1 reference

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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

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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

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Postheparin plasma lipoprotein lipase activity in heterozygotes of familial lipoprotein lipase deficiency

1 reference

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A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency

1 reference

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A specific apoprotein activator for lipoprotein lipase

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Diagnosis of Pancreatitis Masked by Hyperlipemia

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A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians

1 reference

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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

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1 reference

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1 reference

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1 reference

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7 January 2021

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Effects of apolipoprotein C-II (apoC-II) on the lipolysis of very low density lipoproteins from apoC-II deficient patients

1 reference

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7 January 2021

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1 reference

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7 January 2021

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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

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7 January 2021

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Heterozygous lipoprotein lipase deficiency: frequency in the general population, effect on plasma lipid levels, and risk of ischemic heart disease

1 reference

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Hypertriglyceridemia Caused by the Autoantibody to Lipases for Plasma Lipoproteins : A Case Report

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

1 reference

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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

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Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia

1 reference

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7 January 2021

based on heuristic

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Primary Type I Hyperlipoproteinaemia-A Metabolic and Family Study

1 reference

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7 January 2021

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Low-density lipoprotein activates the protease region of recombinant apo(a)

1 reference

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Therapeutic Response to Medium-Chain Triglycerides and ω-3 Fatty Acids in a Patient With the Familial Chylomicronemia Syndrome

1 reference

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

1 reference

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7 January 2021

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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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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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7 January 2021

based on heuristic

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Secondary causes of hyperlipidemia.

1 reference

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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

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7 January 2021

based on heuristic

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1 reference

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7 January 2021

based on heuristic

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Inhibition of Serum and Urine Amylase Activity in Pancreatitis with Hyperlipemia

1 reference

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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

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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

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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

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6

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

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure of human pancreatic lipase

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Human lipoprotein lipase complementary DNA sequence

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970025-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1016/S0889-8529(05)70025-6

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