Výsledky vyhledávání - "Marie Odile Rolland"

Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1

Autor: Jérme Jérôme Harambat, Gérard Champion, Marie-Alice Macher, Pierre Cochat, Rémi Salomon, Bruno Ranchin, Claude Guyot, Marie-France Gagnadoux, Jean-Pierre J.-P. Berthélémé, Sophie S. Taque, Marie-Odile Rolland, Françoise Janssen, Bernard Boudailliez, Hubert Nivet, Brigitte B. Llanas, Sonia Fargue, Michel Tsimaratos

Publikováno v: Kidney International. 76(7):767-773

Primary hyperoxaluria type 1 results from alanine:glyoxylate aminotransferase deficiency. Due to genotype/phenotype heterogeneity in this autosomal recessive disorder, the renal outcome is difficult to predict in these patients and the long-term impa

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Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

Autor: Nathalie Guffon, Yusuke Aoki, Marie-Odile Rolland, Gaixiu Zhang, Toshiyuki Fukao, Marie-Therese Zabot, Naomi Kondo

Publikováno v: Molecular Genetics and Metabolism. 92:375-378

A tandem repeat of exons 8 and 9 was identified in the cDNA for mitochondrial acetoacetyl-CoA thiolase (T2) in a typical T2 deficient patient. Routine mutation analysis using PCR at the genomic level had failed to identify any mutations. Alu element-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16377325da319f766bf776154d256431
https://doi.org/10.1016/j.ymgme.2007.07.007

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Allogeneic Bone Marrow Transplantation in Mevalonic Aciduria

Autor: Pascale de Lonlay, Anne-Marie Prieur, Marianne Debré, Vassili Valayannopoulos, Marina Cavazzana-Calvo, Stéphane Blanche, Daniel Rabier, Alain Fischer, Marie-Odile Rolland, Pierre Quartier, Laurence Cuisset, Bénédicte Neven

Publikováno v: New England Journal of Medicine. 356:2700-2703

Mevalonic aciduria is a rare, inborn error of isoprene biosynthesis characterized by severe, periodic attacks of fever and inflammation, developmental delay, ataxia, and dysmorphic features. This autosomal recessive disease is caused by a mutation in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9d93fae8cdf1933b0b846f49266ac201
https://doi.org/10.1056/nejmoa070715

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Primary hyperoxaluria type 1: still challenging!

Autor: Aurélia Liutkus, Sonia Fargue, Marie-Odile Rolland, Odile Basmaison, Bruno Ranchin, Pierre Cochat

Publikováno v: Pediatric Nephrology. 21:1075-1081

Primary hyperoxaluria type 1, the most common form of primary hyperoxaluria, is an autosomal recessive disorder caused by a deficiency of the liver-specific enzyme alanine: glyoxylate aminotransferase (AGT). This results in increased synthesis and su

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6adddd9a6619b1cdf64215fbd7bf06e8
https://doi.org/10.1007/s00467-006-0124-4

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Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation

Autor: Stanley H. Korman, Alisa Gutman, Marie Odile Rolland, Junko Kanno, Shigeo Kure, Isaiah D. Wexler

Publikováno v: Annals of Neurology. 59:411-415

Objective To determine whether the devastating outcome of neonatal-onset glycine encephalopathy (NKH) could be improved by instituting treatment immediately at birth rather than after symptoms are already well established. Methods A newborn with NKH

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7018393aebfd17d4a81f058cf51262eb
https://doi.org/10.1002/ana.20759

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Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1

Autor: Françoise Chevalier-Porst, Pierre Cochat, Dominique Bozon, Marie-Odile Rolland

Publikováno v: American Journal of Medical Genetics Part A. :80-83

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder of glyoxylate metabolism, in which excessive oxalates are formed by the liver and excreted by the kidneys, causing a wide spectrum of disease, ranging from renal failure in infancy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dd609d616dcfede2a11d38cd77fdfa4
https://doi.org/10.1002/ajmg.a.30375

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Mitochondrial Acetoacetyl-CoA Thiolase (T2) Deficiency: T2-Deficient Patients with 'Mild' Mutation(s) Were Previously Misinterpreted as Normal by the Coupled Assay with Tiglyl-CoA

Autor: Naoki Matsuo, Masashi Kondo, Naomi Kondo, Marie-Therese Zabot, Toshiyuki Fukao, Gai Xiu Zhang, Marie-Odile Rolland, Gilles Renom, Elias Touma

Publikováno v: Pediatric Research. 56:60-64

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism that affects the catabolism of isoleucine and ketone bodies. This disorder is characterized by intermittent ketoacidotic episodes. Recently, we diagnosed T2 defic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f34346d932a952a41557059d4c40b5
https://doi.org/10.1203/01.pdr.0000129657.48122.52

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Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses

Autor: Gardner Bemis, Marie Odile Rolland, Jennifer R. Toone, Dwight K. C. Yim, Derek A. Applegarth, Susan H. Black

Publikováno v: Prenatal Diagnosis. 20:367-370

We report three false negative prenatal diagnostic results, using direct measurement of glycine cleavage enzyme activity in uncultured chorionic villus tissue from 290 pregnancies at risk for non-ketotic hyperglycinaemia (NKH). Testing was done by tw

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https://doi.org/10.1002/(sici)1097-0223(200005)20:5<367::aid-pd814>3.0.co

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Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations

Autor: Shigeo Kure, Yoshiyuki Sakata, Marie Odile Rolland, Hanna Mandel, Yoichi Matsubara, Jaako Leisti, Kuniaki Narisawa, Keiya Tada

Publikováno v: Prenatal Diagnosis. 19:717-720

Prenatal diagnosis for non-ketotic hyperglycinaemia (NKH) was performed by enzymatic analysis of chorionic villus samples in 28 families and by DNA analysis in two families. In 26 families, enzymatic analysis of the glycine cleavage multi-enzyme syst

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https://doi.org/10.1002/(sici)1097-0223(199908)19:8<717::aid-pd625>3.0.co

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