Jean M. Saudubray: search on Z-Library

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1

Inborn Errors of Metabolism Overview

Saudubray, Jean-Marie, Garcia-Cazorla, Àngels

Journal:

Pediatric Clinics of North America

Year:

2018

Language:

english

File:

PDF, 391 KB

english, 2018

2

Endocrine manifestations related to inherited metabolic diseases in adults

Marie-Christine Vantyghem, Dries Dobbelaere, Karine Mention, Jean-Louis Wemeau, Jean-Marie Saudubray, Claire Douillard

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 343 KB

english, 2012

3

Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency

Laurence Faivre, Valérie Cormier-Daire, Dominique Chrétien, Jürgen Christoph von Kleist-Retzow, Jeanne Amiel, Marc Dommergues, Jean-Marie Saudubray, Yves Dumez, Agnès Rötig, Pierre Rustin, Arnold Munn

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 66 KB

english, 2000

4

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency

Laure Thuillier, Hidayeth Rostane, Veronique Droin, France Demaugre, Michèle Brivet, Noman Kadhom, Carina Prip-Buus, Stéphanie Gobin, Jean-Marie Saudubray, Jean-Paul Bonnefont

Journal:

Year:

2003

Language:

english

File:

PDF, 166 KB

english, 2003

5

Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency

Carole Tonetti, Jean-Marie Saudubray, Bernard Echenne, Pierre Landrieu, Stéphane Giraudier, Jacqueline Zittoun

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 232 KB

english, 2003

6

A comparative study of controlled-release morphine (CRM) suspension and CRM tablets in chronic cancer pain

François Boureau, François Saudubray, Christine d'Arnoux, Jacques Vedrenne, Marc Estève, Bernard Roquefeuil, Didier Kong A Siou, René Brunet, Jean Yves Ranchère, Philippe Roussel, Anne Richard, Benoît

Journal:

Journal of Pain and Symptom Management

Year:

1992

Language:

english

File:

PDF, 715 KB

english, 1992

7

Inborn Metabolic Diseases || Clinical Approach to Inborn Errors of Metabolism in Paediatrics

Saudubray, Jean-Marie, van den Berghe, Georges, Walter, John H.

Year:

2012

Language:

english

File:

PDF, 688 KB

english, 2012

8

Hypoglycaemia related to inherited metabolic diseases in adults

Claire Douillard, Karine Mention, Dries Dobbelaere, Jean-Louis Wemeau, Jean-Marie Saudubray, Marie-Christine Vantyghem

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 289 KB

english, 2012

9

An overview of inborn errors of complex lipid biosynthesis and remodelling

Lamari, Foudil, Mochel, Fanny, Saudubray, Jean-Marie

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 517 KB

english, 2015

10

Inborn Metabolic Diseases || Organic Acidemias

Fernandes, John, Saudubray, Jean-Marie, Tada, Keiya

Year:

1990

Language:

english

File:

PDF, 3.34 MB

english, 1990

11

Inborn Metabolic Diseases || Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder

Saudubray, Jean-Marie, van den Berghe, Georges, Walter, John H.

Year:

2012

Language:

english

File:

PDF, 307 KB

english, 2012

12

A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma

Bertrand Ségues, Pascale Saugier Veber, Daniel Rabier, Patrick Calvas, Jean-Marie Saudubray, Brigitte Gilbert-Dussardier, Jean-Paul Bonnefont, Arnold Munnich

Journal:

Year:

1996

Language:

english

File:

PDF, 226 KB

english, 1996

13

Hepatic peroxisomes are deficient in infantile refsum disease: A cytochemical study of 4 cases

Prof. Frank Roels, Alfons Cornelis, Bwee Tien Poll-The, Patrick Aubourg, Helène Ogier, Jacques Scotto, Jean-Marie Saudubray, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 1.69 MB

english, 1986

14

Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects

Angels García-Cazorla, Daniel Rabier, Guy Touati, Bernadette Chadefaux-Vekemans, Cécile Marsac, Pascale de Lonlay, Jean-Marie Saudubray

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 122 KB

english, 2006

15

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

Dr. Charles A. Stanley, Susan DeLeeuw, Paul M. Coates, Christine Vianey-Liaud, Priscille Divry, Jean-Paul Bonnefont, Jean-Marie Saudubray, Morey Haymond, Friedrich K. Trefz, Galen N. Breningstall, Reb

Journal:

Annals of Neurology

Year:

1991

Language:

english

File:

PDF, 734 KB

english, 1991

16

Peroxisome mosaicism in the livers of peroxisomal deficiency patients

Marc Espeel, Hanna Mandel, Florence Poggi, Jan A. M. Smeitink, Ronald J. A. Wanders, Ingrid Kerckaert, Rudolf B. H. Schutgens, Jean-Marie Saudubray, Bwee-Tien Poll-The, Frank Roels

Journal:

Year:

1995

Language:

english

File:

PDF, 1.22 MB

english, 1995

17

Hépatopathies métaboliques congénitales — Recommandations pour la prise en charge nutritionnelle

Guy Touati, Marie-Cécile Nassogne, Pascale Delonlay, Eliane Depondt, Murielle Assoun, Jean-Marie Saudubray

Journal:

Nutrition Clinique et Métabolisme

Year:

1999

File:

PDF, 2.53 MB

1999

18

Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods

Dr William B. Rizzo, Debra A. Craft, Todd L. Kelson, Jean-Paul Bonnefont, Jean-Marie Saudubray, Joseph D. Schulman, Susan H. Black, Khalil Tabsh, Maja Dirocco, R. J. McKinlay Gardner

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 396 KB

english, 1994

19

Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia

Bertrand Segues, Jean-Michel Rozet, Brigitte Gilbert, Pascale Saugier-Veber, Daniel Rabier, Jean-Marie Saudubray, Mireille Carré, Françoise Parrot Rouleau, Alain Menget, Jean-Michel Bonardi, Stanislas

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 315 KB

english, 1995

20

Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis

Mirjam M. C. Wamelink, Eduard A. Struys, Vassili Valayannopoulos, Marie Gonzales, Jean-Marie Saudubray, Cornelis Jakobs

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 124 KB

english, 2008

21

Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach

Bernadette Chadefaux Vekemans, Jean-Paul Bonnefont, Joëlle Aupetit, Ghislaine Royer, Véronique Droin, Tania Attié-Bitach, Jean-Marie Saudubray, Laure Thuillier

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 78 KB

english, 2003

22

A probable sex difference in mutation rates in ornithine transcarbamylase deficiency

Catherine Bonaïti-Pellié, Anna Pelet, Hélène Ogier, Jean-René Nelson, Claude Largillière, Jacques Berthelot, Jean-Marie Saudubray, Arnold Munnich

Journal:

Year:

1990

Language:

english

File:

PDF, 329 KB

english, 1990

23

Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency

Anna Pelet, Agnès Rotig, Catherine Bonaïti-Pellié, Daniel Rabier, Valérie Cormier, Elias Toumas, Danièle Hentzen, Jean-Marie Saudubray, Arnold Munnich

Journal:

Year:

1990

Language:

english

File:

PDF, 498 KB

english, 1990

24

Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)

Emmanuelle Plassart, Alexis Elbaz, Jose Vale Santos, Jocelyne Reboul, Pascale Lapie, Dominique Chauveau, Karin Jurkat-Rott, Joao Guimaraes, Jean-Marie Saudubray, Jean Weissenbach, Frank Lehmann-Horn,

Journal:

Year:

1994

Language:

english

File:

PDF, 538 KB

english, 1994

25

Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders

Bwee Tien Poll-The, Ola H. Skjeldal, Oddvar Stokke, Alf Poulos, France Demaugre, Jean-Marie Saudubray

Journal:

Year:

1989

Language:

english

File:

PDF, 792 KB

english, 1989

26

Hepatic peroxisomes in adrenoleukodystrophy and related syndromes: Cytochemical and morphometric data

Frank Roels, Marina Pauwels, Bwee Tien Poll-Thé, Jacques Scotto, Hélène Ogier, Patrick Aubourg, Jean-Marie Saudubray

Journal:

Virchows Archiv

Year:

1988

Language:

english

File:

PDF, 1.18 MB

english, 1988

27

Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure

Patrick Edery, Bénédicte Gérard, Dominique Chretien, Agnès Rötig, Roberto Cerrone, Daniel Rabier, Caroline Rambaud, Monique Fabre, Jean-Marie Saudubray, Arnold Munnich, Pierre Rustin

Journal:

European Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 796 KB

english, 1994

28

Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease

Philippe Jouvet, Myriam Jugie, Daniel Rabier, Jean Desgrès, Philippe Hubert, Jean Marie Saudubray, Nguyen Khoa Man

Journal:

Intensive Care Medicine

Year:

2001

Language:

english

File:

PDF, 139 KB

english, 2001

29

Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes

Lucie Hertz-Pannier, Michele Déchaux, Martine Sinico, Sophie Emond, Valerie Cormier-Daire, Jean-Marie Saudubray, Francis Brunelle, Patrick Niaudet, Nathalie Seta, Pascale de Lonlay

Journal:

Pediatric Radiology

Year:

2006

Language:

english

File:

PDF, 260 KB

english, 2006

30

Pancreatic arterial calcium stimulation in the diagnosis and localisation of persistent hyperinsulinemic hypoglycaemia of infancy

V. Chigot, Pascale De Lonlay, Marie-Cécile Nassogne, Kathleen Laborde, Véronique Delagne, Jean-Christophe Fournet, Claire Nihoul-Fékété, Jean-Marie Saudubray, Francis Brunelle

Journal:

Pediatric Radiology

Year:

2001

Language:

english

File:

PDF, 116 KB

english, 2001

31

A risk factor for chronic mild hyperammonaemia

Pierre Kamoun, Daniel Rabier, Jean-Marie Saudubray

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 39 KB

english, 2002

32

Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

Matthias R. Baumgartner, Daniel Rabier, Marie-Cécile Nassogne, Jean-Louis Dufier, Jean-Paul Padovani, Pierre Kamoun, David Valle, Jean-Marie Saudubray

Journal:

European Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 289 KB

english, 2005

33

Impact of inborn errors of metabolism on admission and mortality in a pediatric intensive care unit

Philippe Jouvet, Guy Touati, Fabrice Lesage, Laurent Dupic, Marisa Tucci, Jean Marie Saudubray, Philippe Hubert

Journal:

European Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 94 KB

english, 2007

34

Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia

Stéphanie Gobin, Jean-Paul Bonnefont, Carina Prip-Buus, Claude Mugnier, Magali Ferrec, France Demaugre, Jean-Marie Saudubray, Hidayeth Rostane, Fatima Djouadi, William Wilcox, Stephen Cederbaum, Richa

Journal:

Year:

2002

Language:

english

File:

PDF, 186 KB

english, 2002

35

A deletion in the human QP-C gene causes a complex

Sandrine Haut, Michèle Brivet, Guy Touati, Pierre Rustin, Sophie Lebon, Angela Garcia-Cazorla, Jean Marie Saudubray, Audrey Boutron, Alain Legrand, Abdelhamid Slama

Journal:

Year:

2003

Language:

english

File:

PDF, 183 KB

english, 2003

36

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

Cécile Marsac, Chantal Benelli, Isabelle Desguerre, Monique Diry, Françoise Fouque, L. De Meirleir, Gérard Ponsot, S. Seneca, Florence Poggi, Jean-Marie Saudubray, Marie-Thérèse Zabot, Daniel Fontan,

Journal:

Year:

1997

Language:

english

File:

PDF, 114 KB

english, 1997

37

Peripheral neuropathy and inborn errors of metabolism in adults

F. Sedel, C. Barnerias, O. Dubourg, I. Desguerres, O. Lyon-Caen, Jean-Marie Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 350 KB

english, 2007

38

Neurometabolic disorders

Jean-Marie Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 56 KB

english, 2009

39

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

CHRISTINE BARNERIAS, JEAN-MARIE SAUDUBRAY, GUY TOUATI, PASCALE DE LONLAY, OLIVIER DULAC, GERARD PONSOT, CÉCILE MARSAC, MICHÈLE BRIVET, ISABELLE DESGUERRE

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 306 KB

english, 2010

40

Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome

Nassogne, Marie-C&#x000E9, cile, Sharrard, Mark, Hertz-Pannier, Lucie, Armengaud, Didier, Touati, Guy, Delonlay-Debeney, Pascale, Zerah, Michel, Brunelle, Francis, Saudubray, Jean-Marie

Journal:

Child's Nervous System

Year:

2002

Language:

english

File:

PDF, 219 KB

english, 2002

41

Carnitine Palmitoyltransferase Deficiencies

Jean-Paul Bonnefont, France Demaugre, Carina Prip-Buus, Jean-Marie Saudubray, Michèle Brivet, Nourredine Abadi, Laure Thuillier

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 126 KB

english, 1999

42

Aberrant mRNA Splicing Associated with Coding Region Mutations in Children with Carnitine-Acylcarnitine Translocase Deficiency

Betty Y.L. Hsu, Vito Iacobazzi, Zhili Wang, Heidi Harvie, Ronald A. Chalmers, Jean-Marie Saudubray, Ferdinando Palmieri, Arupa Ganguly, Charles A. Stanley

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 89 KB

english, 2001

43

Search for the biochemical basis of biotin dependent multiple carboxylase deficiencies: determination of biotin activation in cultured fibroblasts

Mouna Zamboni, Michel Gaudry, Andrée Marquet, Arnold Munnich, Jean-Marie Saudubray, Cécile Marsac

Journal:

Clinica Chimica Acta

Year:

1982

Language:

english

File:

PDF, 509 KB

english, 1982

44

Biotin dependent carboxylase activities in normal human and multicarboxylase deficient patient fibroblasts: relationship to the biotin content of the culture medium

Cécile Marsac, Michel Gaudry, Christine Augereau, Arlette Moncion, Jean-Marie Saudubray, François-Xavier Coudé, Arnold Munnich

Journal:

Clinica Chimica Acta

Year:

1983

Language:

english

File:

PDF, 713 KB

english, 1983

45

Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography

Robert M. Kok, Lidie Kaster, Ad P.J.M. de Jong, Bweetien Poll-Thé, Jean-Marie Saudubray, Cornelis Jakobs

Journal:

Clinica Chimica Acta

Year:

1987

Language:

english

File:

PDF, 730 KB

english, 1987

46

Ion-exchange chromatography and clinical criteria in the screening of the aminoacidopathies

Philippe R. Parvy, Jacqueline I. Bardet, Daniel M. Rabier, Jean-Marie Saudubray, Pierre P. Kamoun

Journal:

Clinica Chimica Acta

Year:

1988

Language:

english

File:

PDF, 480 KB

english, 1988

47

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria

Pascal Saunier, Dominique Chretien, Chantal Wood, Agnès Rötig, Jean-Paul Bonnefont, Jean-Marie Saudubray, Daniel Rabier, Arnold Munnich, Pierre Rustin

Journal:

Neuromuscular Disorders

Year:

1995

Language:

english

File:

PDF, 399 KB

english, 1995

48

Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: A study of 31 patients

Angels Garcia-Cazorla, Pascale De Lonlay, Pierre Rustin, Dominique Chretien, Guy Touati, Daniel Rabier, Abdel Slama, Jean Marie Saudubray

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 196 KB

english, 2006

49

Transaldolase deficiency: A new cause of hydrops fetalis and neonatal multi-organ disease

Vassili Valayannopoulos, Nanda M. Verhoeven, Karine Mention, Gajja S. Salomons, Danièle Sommelet, Marie Gonzales, Guy Touati, Pascale de Lonlay, Cornelis Jakobs, Jean-Marie Saudubray

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 435 KB

english, 2006

50

Neonatal hypoglycaemia: aetiologies

Pascale de Lonlay, Irina Giurgea, Guy Touati, Jean-Marie Saudubray

Journal:

Seminars in Neonatology

Year:

2004

Language:

english

File:

PDF, 167 KB

english, 2004

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