Search Results - "Fouchier, S W"

High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent by Fouchier, S W, Sankatsing, R R, Peter, J, Castillo, S, Pocovi, M, Alonso, R, Kastelein, J J P, Defesche, J C

“…Background: Familial hypobetalipoproteinaemia (FHBL) is an autosomal co-dominant hereditary disorder of lipoprotein metabolism characterised by decreased low…”
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Plasma levels of PCSK9 and phenotypic variability in familial hypercholesterolemia by Huijgen, R., Fouchier, S.W., Denoun, M., Hutten, B.A., Vissers, M.N., Lambert, G., Kastelein, J.J.P.

“…The extent of hypercholesterolemia varies considerably in patients with familial hypercholesterolemia (FH). We hypothesized that the variability of the FH…”
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Hepatic and Cardiovascular Consequences of Familial Hypobetalipoproteinemia by Sankatsing, Raaj R, Fouchier, Sigrid W, de Haan, Stefan, Hutten, Barbara A, de Groot, Eric, Kastelein, John J.P, Stroes, Erik S.G

“…OBJECTIVE—Individuals with familial hypobetalipoproteinemia (FHBL) have been reported to be prone to fatty liver disease (FLD). Conversely, the profound…”
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The molecular basis of familial hypercholesterolemia in The Netherlands by FOUCHIER, Sigrid W, DEFESCHE, Joep C, UMANS-ECKENHAUSEN, Marina A. W, KASTELEIN, John J. P

“…Mutations in the low-density lipoprotein (LDL) receptor gene are responsible for familial hypercholesterolemia (FH). At present, more than 600 mutations in…”
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Molecular and Biochemical Characterization of Rat γ-Trimethylaminobutyraldehyde Dehydrogenase and Evidence for the Involvement of Human Aldehyde Dehydrogenase 9 in Carnitine Biosynthesis by Vaz, Frédéric M., Fouchier, Sigrid W., Ofman, Rob, Sommer, Monica, Wanders, Ronald J.A.

“…The penultimate step in carnitine biosynthesis is mediated by γ-trimethylaminobutyraldehyde dehydrogenase (EC1.2.1.47), a cytosolic NAD+-dependent aldehyde…”
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Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein by Sorrentino, Vincenzo, Fouchier, Sigrid W, Motazacker, Mohammad M, Nelson, Jessica K, Defesche, Joep C, Dallinga-Thie, Geesje M, Kastelein, John J P, Kees Hovingh, G, Zelcer, Noam

“…Recent genome-wide association studies suggest that IDOL (also known as MYLIP) contributes to variation in circulating levels of low-density lipoprotein…”
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Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia by Stitziel, Nathan O, Fouchier, Sigrid W, Sjouke, Barbara, Peloso, Gina M, Moscoso, Alessa M, Auer, Paul L, Goel, Anuj, Gigante, Bruna, Barnes, Timothy A, Melander, Olle, Orho-Melander, Marju, Duga, Stefano, Sivapalaratnam, Suthesh, Nikpay, Majid, Martinelli, Nicola, Girelli, Domenico, Jackson, Rebecca D, Kooperberg, Charles, Lange, Leslie A, Ardissino, Diego, McPherson, Ruth, Farrall, Martin, Watkins, Hugh, Reilly, Muredach P, Rader, Daniel J, de Faire, Ulf, Schunkert, Heribert, Erdmann, Jeanette, Samani, Nilesh J, Charnas, Lawrence, Altshuler, David, Gabriel, Stacey, Kastelein, John J.P, Defesche, Joep C, Nederveen, Aart J, Kathiresan, Sekar, Hovingh, G Kees

“…OBJECTIVE—Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol…”
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What promise does PCSK9 hold? by Kastelein, John J P, Fouchier, Sigrid W, Defesche, Joep C

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Management of hereditary dyslipidaemia; the paradigm of autosomal dominant hypercholesterolaemia by FOUCHIER, Sigrid W, RODENBURG, Jessica, DEFESCHE, Joep C, KASTELEIN, John J. P

“…Inherited, or autosomal dominant, hypercholesterolaemia, with an average global prevalence of one in 500 individuals, is one of the most frequent inherited…”
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