The familial chylomicronemia syndrome (Q28286373)

familial chylomicronemia syndrome

Europe PubMed Central

title

The familial chylomicronemia syndrome (English)

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main subject

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S Santamarina-Fojo

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

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

7 January 2021

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

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7 January 2021

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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7 January 2021

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

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

7 January 2021

Homology of lipoprotein lipase to pancreatic lipase

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

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

7 January 2021

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

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7 January 2021

Hypertriglyceridemia Associated with Deficiency of Apolipoprotein C-II

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Heterogeneity of primary lipoprotein lipase deficiency

1 reference

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

7 January 2021

Primary type I hyperlipoproteinemia with normal lipoprotein lipase activity

1 reference

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

7 January 2021

Severe hypertriglyceridemia: role of familial and acquired disorders

1 reference

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

7 January 2021

Chylomicronemia syndrome in diabetes mellitus.

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

7 January 2021

Structure of apolipoprotein C-IIToronto, a nonfunctional human apolipoprotein

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Structure of the human lipoprotein lipase gene

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Suppression of amylase activity by hypertriglyceridemia.

1 reference

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

7 January 2021

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

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

The human preproapolipoprotein C-II gene

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Assessment of French patients with LPL deficiency for French Canadian mutations

1 reference

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

7 January 2021

Increased prevalence of apolipoprotein E4 in type V hyperlipoproteinemia

1 reference

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

7 January 2021

Transient lipoprotein lipase deficiency with hyperchylomicronemia.

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

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

7 January 2021

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

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

7 January 2021

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

1 reference

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

7 January 2021

Phenotypic variation of mutations in the human lipoprotein-lipase gene

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

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

7 January 2021

Abetalipoproteinemia. Report of two cases and review of therapy

1 reference

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

7 January 2021

Preparation, characterization, and measurement of lipoprotein lipase

1 reference

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

7 January 2021

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

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

7 January 2021

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

1 reference

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

7 January 2021

Autoimmune hyperchylomicronemia

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

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

7 January 2021

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

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

A specific apoprotein activator for lipoprotein lipase

1 reference

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

7 January 2021

Diagnosis of Pancreatitis Masked by Hyperlipemia

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

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

7 January 2021

A missense mutation (Asp250→Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries

1 reference

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

7 January 2021

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

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

7 January 2021

Familial lipoprotein lipase (LPL) deficiency: A catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Familial apolipoprotein CII deficiency: plasma lipoproteins and apolipoproteins in heterozygous and homozygous subjects and the effects of plasma infusion

1 reference

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

7 January 2021

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

7 January 2021

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

1 reference

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

7 January 2021

Hypertriglyceridemia caused by the autoantibody to lipases for plasma lipoproteins: a case report

1 reference

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

7 January 2021

Evidence for the chylomicron origin of lipids accumulating in diabetic eruptive xanthomas: a correlative lipid biochemical, histochemical, and electron microscopic study.

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

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

7 January 2021

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

1 reference

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

7 January 2021

Primary Type I Hyperlipoproteinaemia-A Metabolic and Family Study

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Therapeutic response to medium-chain triglycerides and omega-3 fatty acids in a patient with the familial chylomicronemia syndrome.

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Higher triglycerides, lower high-density lipoprotein cholesterol, and higher systolic blood pressure in lipoprotein lipase-deficient heterozygotes. A preliminary report

1 reference

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

7 January 2021

Combined deficiency of apolipoprotein C-II and lipoprotein lipase in familial hyperchylomicronemia

1 reference

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

7 January 2021

Secondary causes of hyperlipidemia.

1 reference

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

7 January 2021

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

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

7 January 2021

Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana.

1 reference

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

7 January 2021

Inhibition of Serum and Urine Amylase Activity in Pancreatitis with Hyperlipemia

1 reference

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

7 January 2021

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

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

7 January 2021

Phenotypic heterogeneity in the extended pedigree of a proband with lipoprotein lipase deficiency.

1 reference

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

7 January 2021

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

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

Structure of human pancreatic lipase

1 reference

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

7 January 2021

Human lipoprotein lipase complementary DNA sequence.

1 reference

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

7 January 2021

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

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

1 reference

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

7 January 2021