Papers by Michèle Brivet
Autoévaluations de l'article : Anomalies héréditaires du métabolisme du galactose et du fructose
/data/traites/pem/04-57729/, Apr 11, 2011
Anomalies h�r�ditaires du m�tabolisme du galactose et du fructose
Open Access
associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD defici... more associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report
Un patient infect� par le VIH tr�s, tr�s essouffl�
Rev Med Interne, 1999
[Fructose 1,6-diphosphatase deficiency in 2 sisters]
Archives françaises de pédiatrie
ABSTRACT
[Metabolic cooperation in cocultures of fibroblasts from patients with various abnormalities of galactose metabolism]
Comptes Rendus de l Académie des Sciences - Series III - Sciences de la Vie
ABSTRACT
Bricker et al 2012 supplementary files
[Hereditary abnormalities of galactose metabolism: diagnosis and biochemical supervision (author's transl)]
Annales de biologie clinique, 1979
The authors define the main stages of the biochemical study of hereditary abnormalities of galact... more The authors define the main stages of the biochemical study of hereditary abnormalities of galactose metabolism. They review laboratory examinations for detection, enzyme examinations which provide the diagnostic proof, further examinations which permit one to follow the course and efficacy of a galactose-free diet, the demonstration of genetic variants, the technics of antenatal diagnosis and routine neonatal detection.
Study of some enzymatic activities in human liver cell cultures
Biomedicine / [publiée pour l'A.A.I.C.I.G.], 1979
Some enzymatic activities were studied in long ter cultures of human liver cells : glucose-6-phos... more Some enzymatic activities were studied in long ter cultures of human liver cells : glucose-6-phosphatase, U.D.P. glucuronosyltransferase, phenylalanine 4-hydroxylase and tyrosine aminotransferase. Only weak tyrosine aminotransferase activity has been found in 12 subcultures, and it has not been increased by addition of corticoids. This tyrosine aminotransferase activity has been measured at different passages of the culture. Our results are compared with those found in literature. The different reasons which could explain the absence of liver specific biochemical functions have been discussed.
[Mitochondrial diseases. Mitochondria, the major cellular energy producing organelle, in vivo functional approach to mitochondrial diseases]
Annales de biologie clinique
Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression
American journal of human genetics, 1996
Carnitine palmitoyltransferase (CPT) II deficiency, an inherited disorder of mitochondrial long-c... more Carnitine palmitoyltransferase (CPT) II deficiency, an inherited disorder of mitochondrial long-chain fatty-acid (LCFA) oxidation, results in two distinct clinical phenotypes, namely, an adult (muscular) form and an infantile (hepatocardiomuscular) form. The rationale of this phenotypic heterogeneity is poorly understood. The adult form of the disease is commonly ascribed to the Ser-113-Leu substitution in CPT II. Only few data are available regarding the molecular basis of the infantile form of the disease. We report herein a homozygous A-2399-C transversion predicting a Tyr-628-Ser substitution in a CPT II-deficient infant. In vitro expression of mutant cDNA in COS-1 cells demonstrated the responsibility of this mutation for the disease. Metabolic consequences of the SER-113-Leu and Tyr-628-Ser substitutions were studied in fibroblasts. The Tyr-628-Ser substitution (infantile form) resulted in a 10% CPT II residual activity, markedly impairing LCFA oxidation, whereas the Ser-113-L...
[Late neurologic complications of galactosemia: study of 3 cases]
Revue neurologique, 1995
Galactosemia is an autosomal recessive, inborn error of galactose metabolism due to the deficienc... more Galactosemia is an autosomal recessive, inborn error of galactose metabolism due to the deficiency of galactose-I-phosphate uridyl transferase. Late-onset neurologic complications may develop despite Galactose restriction. Three adult patients are reported. They suffered from mental retardation. Two of them developed progressive cerebellar ataxia, spastic gait and postural tremor. The magnetic resonance imaging revealed moderate cortical atrophy, multifocal areas of increased signal in the periventricular white matter on T2-weighted images, and in one case, abnormal myelination. The Fluoro-2-deoxy-D-glucose position emission tomography showed different patterns of regional hypometabolism.
[Simplified determination of isoamylases by the inhibition method: application to a case of hyperamylasuria with an unusual cause]
Gastroentérologie clinique et biologique, 1983
Recent progress in the diagnosis of neonatal and infantile diseases - Malaises, morts subites et comas revelateurs des deficits de l'oxydation des acides gras
Archives de Pédiatrie
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Papers by Michèle Brivet