Primary lipoprotein-lipase-activity deficiency: clinical investigation of a French Canadian population.
C Gagne, LD Brun, P Julien, S Moorjani… - CMAJ: Canadian …, 1989 - ncbi.nlm.nih.gov
Abstract We examined 56 French Canadians, aged 1 week to 54 years, from eastern
Quebec who were referred to the Laval University Lipid Research Centre and in whom …
Quebec who were referred to the Laval University Lipid Research Centre and in whom …
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.
MV Monsalve, H Henderson… - The Journal of …, 1990 - Am Soc Clin Investig
Lipoprotein lipase (LPL) plays a crucial role in the regulation of lipoprotein metabolism by
hydrolysing the core triglycerides of circulating chylomicrons and VLDL. Human, bovine …
hydrolysing the core triglycerides of circulating chylomicrons and VLDL. Human, bovine …
Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation.
DE Wilson, M Emi, PH Iverius, A Hata… - The Journal of …, 1990 - Am Soc Clin Investig
Familial lipoprotein lipase (LPL) deficiency is a rare genetic disorder accompanied by well-
characterized manifestations. The phenotypic expression of heterozygous LPL deficiency …
characterized manifestations. The phenotypic expression of heterozygous LPL deficiency …
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.
T Gotoda, N Yamada, M Kawamura… - The journal of …, 1991 - Am Soc Clin Investig
The DNA sequences were determined for the lipoprotein lipase (LPL) gene from five
unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all …
unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all …
Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene.
M Emi, A Hata, M Robertson, PH Iverius… - American journal of …, 1990 - ncbi.nlm.nih.gov
In DNA from a male patient of German and Polish ancestry who has lipoprotein lipase
deficiency, sequencing of all nine exons and intron-exon boundaries corresponding to the …
deficiency, sequencing of all nine exons and intron-exon boundaries corresponding to the …
Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a …
HE Henderson, Y Ma, MF Hassan… - The Journal of …, 1991 - Am Soc Clin Investig
Studies on the molecular biology of lipoprotein lipase (LPL) deficiency have been facilitated
by the availability of LPL gene probes and the recent characterization of gene mutations …
by the availability of LPL gene probes and the recent characterization of gene mutations …
Defective enzyme protein in lipoprotein lipase deficiency
JH Auwerx, SP Babirak, WY Fujimoto… - European journal of …, 1989 - Wiley Online Library
A monoclonal antibody to lipoprotein lipase (LPL) has been used in an enzyme‐linked
immunosorbent assay (ELISA) for LPL protein mass. Measurement of LPL immunoreactive …
immunosorbent assay (ELISA) for LPL protein mass. Measurement of LPL immunoreactive …
Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy
F Mailly, J Palmen, DPR Muller, T Gibbs… - Human …, 1997 - Wiley Online Library
The aim of this study was to identify mutations in the lipoprotein lipase (LPL) gene in 20
unrelated patients with familial lipoprotein deficiency (FLLD) and to investigate the …
unrelated patients with familial lipoprotein deficiency (FLLD) and to investigate the …
Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.
G Miesenböck, B Hölzl, B Föger… - The Journal of …, 1993 - Am Soc Clin Investig
In 16 members of two Austrian families affected by a missense mutation at codon 188 of the
lipoprotein lipase (LPL) gene (8 heterozygous and 8 normal subjects), carrier status for the …
lipoprotein lipase (LPL) gene (8 heterozygous and 8 normal subjects), carrier status for the …
Plasma lipoproteins in familial hepatic lipase deficiency.
PW Connelly, GF Maguire, M Lee… - … : An Official Journal of the …, 1990 - Am Heart Assoc
We have studied the lipoproteins, apolipoproteins, and postheparin lipase activities in an
extended pedigree with familial hepatic lipase deficiency. A deficiency of hepatic lipase was …
extended pedigree with familial hepatic lipase deficiency. A deficiency of hepatic lipase was …
