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Carnitine palmitoyltransferase deficiencies.
Carnitine palmitoyltransferase (CPT) deficiencies are common disorders of mitochondrial fatty acid oxidation. The CPT system is made up of two separate proteins located in the outer- (CPT1) andExpand
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Phenotypic and functional characteristics of human newborns' B lymphocytes.
It has been demonstrated two major facts concerning human newborns' B lymphocytes: 1) they differentiate poorly into Ig-producing cells and 2) they express CD5 and CD1c membrane proteins. We haveExpand
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Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency
Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common inherited disease of the mitochondrial long‐chain fatty acid (LCFA) oxidation, may result in distinct clinical phenotypes, namely aExpand
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Functional and Structural Basis of Carnitine Palmitoyltransferase 1A Deficiency*
Carnitine palmitoyltransferase 1A (CPT1A) is the key regulatory enzyme of hepatic long-chain fatty acid β-oxidation. Human CPT1A deficiency is characterized by recurrent attacks of hypoketoticExpand
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  • Open Access
Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia
Abstract. Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation. CPT1 controls the import of long-chain fatty acids intoExpand
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Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.
Hepatic carnitine palmitoyltransferase 1 (CPT1A) deficiency is a rare disorder of mitochondrial fatty acid oxidation inherited as an autosomal recessive trait. Symptomatology comprises attacks ofExpand
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Novel CFTR mutations in black cystic fibrosis patients
Cystic fibrosis (CF) is considered as a rare disease in black Africans. In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed toExpand
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Inability of immunocompetent thymocytes to produce T-cell growth factor under adenosine deaminase deficiency conditions.
Abstract Five density-defined subpopulations of rat thymocytes were separated by isopycnic centrifugation on a discontinuous density Ficoll gradient and compared with respect to their response to ConExpand
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Uridine as the only alternative to pyrimidine de novo synthesis in rat T lymphocytes
Concanavalin A‐induced proliferation of rat T‐lymphocytes is completely inhibited by 10−5 M pyrazofurin, a potent inhibitor of pyrimidine de novo synthesis, as judged by cell viability andExpand
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  • Open Access
5'-Deoxy-5'-methylthioadenosine inhibition of rat T lymphocyte phosphodiesterase: correlation with inhibition of Con A induced proliferation.
5'-Deoxy-5'-methylthioadenosine inhibits Concanavalin A induced rat T lymphocyte proliferation in a dose dependent manner (50 microM to 1000 microM). The extent of inhibition by MTA of lymphocyteExpand
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