Ismael Ejarque

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Familial hypercholesterolemia (FH) and familial defective apoB 100 (FDB) are characterized by increased plasma low-density lipoprotein cholesterol (LDLc) levels and risk of coronary heart disease (CHD). FDB is clinically indistinguishable from FH. The aims of this study were to evaluate clinical diagnosis criteria for FDB and to compare the lipoprotein(More)
Few data are available on genotype-phenotype interactions among familial hypercholesterolemia (FH) patients in South European populations and there are no data about the influence of R3500Q mutation on lipoprotein phenotype compared to low-density lipoprotein receptor (LDLR) mutations. The objective of the study is to analyze the influence of mutations in(More)
BACKGROUND The pathogenic role of hyperhomocysteinemia in cryptogenic stroke is not well established. We aimed to determine homocysteine levels in patients with cryptogenic stroke considering the possible variables that may act as confounders and analyze the influence of obesity on this association. PATIENTS AND METHODS We conducted a case-control study(More)
BACKGROUND AND OBJECTIVE To compare the lipoprotein phenotype between FDB and heterozygous familial hypercholesterolemia (FH); to study the prevalence and possible founder effect of familial ligand-defective apo B100 (FDB) in a Mediterranean population, and to analyze the clinical and biochemical characteristics of FDB patients. SUBJECTS AND METHOD We(More)
BACKGROUND Familial ligand-defective apolipoprotein B 100 (FDB) is an autosomal inherited disease due to mutations on apo B 100, clinically indistinguishable from familial hypercholesterolemia (FH). We described the first Spanish homozygote for FDB. METHODS We have screened R3500Q mutation of apo B gene (PCR-SSCP analysis) in a large family with FDB and(More)
AIMS 1) to study lipoprotein (a) (Lp(a)) plasma values in subjects with familial ligand-defective apo B 100 (FDB). METHODS We studied 19 heterozygous FDB subjects (8 males) from 12 families, carriers of R3500Q mutation on apo B gene and 90 controls (34 males). The genetic diagnosis was established with PCR-SSCP analysis and automatic sequencing. In all(More)
To the Editor : Kabuki syndrome (OMIM 147920), also known as Niikawa–Kuroki syndrome (NKS), is characterized by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, mental retardation, and growth deficiency (1, 2). Recently, mutations in the MLL2 gene were identified as the genetic cause of NKS (3). Hardikar syndrome (HS; OMIM(More)