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101

Clinical presentations and laboratory investigations in respiratory chain deficiency

Arnold Munnich, Agnès Rötig, Dominique Chretien, JeanMarie Saudubray, Valérie Cormier, Pierre Rustin

Journal:

European Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 1.31 MB

english, 1996

102

In vivo propionate oxidation as a prognostic indicator in disorders of propionate metabolism

G. N. Thompson, J. H. Walter, J. -L. Bresson, J. -P. Bonnefont, J. -M. Saudubray, J. V. Leonard, D. Halliday

Journal:

European Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 429 KB

english, 1990

103

Hyperinsulinism in children: Diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases

J. Dubois, F. Brunelle, G. Touati, G. Sebag, C. Nuttin, T. Thach, C. Nikoul-Fekete, J. Rahier, J. M. Saudubray

Journal:

Pediatric Radiology

Year:

1995

Language:

english

File:

PDF, 1.03 MB

english, 1995

104

The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states

J. P. Bonnefont, N. B. Specola, A. Vassault, A. Lombes, H. Ogier, J. B. C. de Klerk, A. Munnich, M. Coude, M. Paturneau-Jouas, J. -M. Saudubray

Journal:

European Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 577 KB

english, 1990

105

Metabolic pigmentary retinopathies: Diagnosis and therapeutic attempts

B. T. Poll-The, T. Billette de Villemeur, M. Abitbol, J. L. Dufier, J. M. Saudubray

Journal:

European Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 2.89 MB

english, 1992

106

Propionylcarnitine excretion is not affected by metronidazole administration to patients with disorders of propionate metabolism

S. P. Burns, R. A. Iles, J. -M. Saudubray, R. A. Chalmers

Journal:

European Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 386 KB

english, 1996

107

Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency

A. Munnich, A. Fischer, J. M. Saudubray, C. Griscelli, F. X. Coude, H. Ogier, C. Charpentier, J. Frezal

Journal:

Journal of Inherited Metabolic Disease

Year:

1981

Language:

english

File:

PDF, 273 KB

english, 1981

108

Pancreatic venous samplings in infants and children with primary hyperinsulinism

F. Brunelle, V. Negre, M. O. Barth, C. N. Fekete, P. Czernichow, J. M. Saudubray, F. Kuntz, T. Tach, D. Lallemand

Journal:

Pediatric Radiology

Year:

1989

Language:

english

File:

PDF, 1.04 MB

english, 1989

109

Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid

A. Poulos, C. van Crugten, P. Sharp, W. F. Carey, E. Robertson, D. M. O. Becroft, J. M. Saudubray, B. T. Poll-The, E. Christensen, N. Brandt

Journal:

European Journal of Pediatrics

Year:

1986

Language:

english

File:

PDF, 444 KB

english, 1986

110

Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts

O. Søvik, J. -M. Saudubray, A. Munnich, L. Sweetman

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 200 KB

english, 1992

111

Hudson memorial lecture

J. M. Saudubray, H. Ogier, C. Charpentier, E. Depondt, F. X. Coudé, A. Munnich, G. Mitchell, F. Rey, J. Rey, J. Frézal

Journal:

Journal of Inherited Metabolic Disease

Year:

1984

Language:

english

File:

PDF, 838 KB

english, 1984

112

Renal

S. Picca, A. Bartuli, C. Dionisi-Vici, Strologo L. Dello, A. Villani, R. Bianchi, G. Salvatori, G. Rizzoni, G. O’Sabetta, P. Jouvet, F. Poggi, D. Rabier, J. M. Saudubray, N. Man, V. B. Nguyen, M. Joki

Journal:

Intensive Care Medicine

Year:

1996

Language:

english

File:

PDF, 201 KB

english, 1996

113

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

114

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

115

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

116

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

117

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

118

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

119

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

B. Parfait, P. de Lonlay, J. C. von Kleist-Retzow, V. Cormier-Daire, D. Chrétien, A. Rötig, D. Rabier, J. M. Saudubray, P. Rustin, A. Munnich

Journal:

European Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 100 KB

english, 1999

120

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

121

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

122

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

123

Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation

H. G. M. Oude Luttikhuis, G. Touati, D. Rabier, M. Williams, C. Jakobs, J. M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

2005

Language:

english

File:

PDF, 97 KB

english, 2005

124

Methylmalonic and propionic acidaemias: Management and outcome

H. Ogier Baulny, J. F. Benoist, O. Rigal, G. Touati, D. Rabier, J. M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

2005

Language:

english

File:

PDF, 209 KB

english, 2005

125

Dominantly inherited hyperinsulinaemic hypoglycaemia

P. Lonlay, I. Giurgea, C. Sempoux, G. Touati, F. Jaubert, J. Rahier, M. Ribeiro, F. Brunelle, C. Nihoul-Fékété, J.-J. Robert, J.-M. Saudubray, C. Stanley, C. Bellanné-Chantelot

Journal:

Journal of Inherited Metabolic Disease

Year:

2005

Language:

english

File:

PDF, 95 KB

english, 2005

126

Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture

G. Touati, V. Valayannopoulos, K. Mention, P. de Lonlay, P. Jouvet, E. Depondt, M. Assoun, J. C. Souberbielle, D. Rabier, H. Ogier de Baulny, J.-M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 913 KB

english, 2006

127

Clinical approach to treatable inborn metabolic diseases: An introduction

J.-M. Saudubray, F. Sedel, J. H. Walter

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 302 KB

english, 2006

128

Breast feeding in IMD

A. MacDonald, E. Depondt, S. Evans, A. Daly, C. Hendriksz, A. Chakrapani A, J.-M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 177 KB

english, 2006

129

Epilepsy and inborn errors of metabolism in adults: A diagnostic approach

F. Sedel, I. Gourfinkel-An, O. Lyon-Caen, M. Baulac, J.-M. Saudubray, V. Navarro

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 294 KB

english, 2007

130

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

F. Sedel, N. Baumann, J.-C. Turpin, O. Lyon-Caen, J.-M. Saudubray, D. Cohen

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 327 KB

english, 2007

131

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

132

Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach

F. Sedel, B. Fontaine, J. M. Saudubray, O. Lyon-Caen

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 309 KB

english, 2007

133

Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

F. Sedel, J.-M. Saudubray, E. Roze, Y. Agid, M. Vidailhet

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 351 KB

english, 2008

134

Leukoencephalopathies associated with inborn errors of metabolism in adults

F. Sedel, A. Tourbah, B. Fontaine, C. Lubetzki, N. Baumann, J.-M. Saudubray, O. Lyon-Caen

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 1.71 MB

english, 2008

135

Neurometabolic disorders

Jean-Marie Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 56 KB

english, 2009

136

Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases

C. BODEMER, Y. DE PROST, B. BACHOLLET, F. POGGI, D. TEILLAC-HAMEL, S. FRAITAG, J.M. SAUDUBRAY

Journal:

British Journal of Dermatology

Year:

1994

Language:

english

File:

PDF, 2.66 MB

english, 1994

137

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

138

Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease

P. Jouvet, F. Poggi, D. Rabier, J. L. Michel, P. Hubert, M. Sposito, J. M. Saudubray, N. K. Man

Journal:

Journal of Inherited Metabolic Disease

Year:

1997

Language:

english

File:

PDF, 52 KB

english, 1997

139

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

J. Jaeken, J. Artigas, R. Barone, A. Fiumara, T. J. de Koning, B. T. Poll-The, J. F. de Rijk-van Andel, G. F. Hoffmann, B. Assmann, E. Mayatepek, M. Pineda, M. A. Vilaseca, J. M. Saudubray, B. Schlüte

Journal:

Journal of Inherited Metabolic Disease

Year:

1997

Language:

english

File:

PDF, 13 KB

english, 1997

140

Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

D. Rabier, C. Diry, A. Rotig, P. Rustin, B. Heron, J. Bardet, P. Parvy, G. Ponsot, C. Marsac, J. M. Saudubray, A. Munnich, P. Kamoun

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 97 KB

english, 1998

141

The metabolism of phytanic acid and pristanic acid in man: A review

N. M. Verhoeven, R. J. A. Wanders, B. T. Poll-The, J.-M. Saudubray, C. Jakobs

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 183 KB

english, 1998

142

Defects in activation and transport of fatty acids

M. Brivet, A. Boutron, A. Slama, C. Costa, L. Thuillier, F. Demaugre, D. Rabier, J. M. Saudubray, J. P. Bonnefont

Journal:

Journal of Inherited Metabolic Disease

Year:

1999

Language:

english

File:

PDF, 125 KB

english, 1999

143

Recognition and management of fatty acid oxidation defects: A series of 107 patients

J. M. Saudubray, D. Martin, P. De Lonlay, G. Touati, F. Poggi-Travert, D. Bonnet, P. Jouvet, M. Boutron, A. Slama, C. Vianey-Saban, J. P. Bonnefont, D. Rabier, P. Kamoun, M. Brivet

Journal:

Journal of Inherited Metabolic Disease

Year:

1999

Language:

english

File:

PDF, 97 KB

english, 1999

144

Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency

C. Costa, J. M. Costa, J. M. Nuoffer, A. Slama, A. Boutron, J. M. Saudubray, A. Legrand, M. Brivet

Journal:

Journal of Inherited Metabolic Disease

Year:

1999

Language:

english

File:

PDF, 56 KB

english, 1999

145

Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement

G. Touati, E. Rusthoven, E. Depondt, C. Dorche, M. Duran, B. Heron, D. Rabier, M. Russo, J. M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

2000

Language:

english

File:

PDF, 98 KB

english, 2000

146

Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis

J. M. Saudubray, P. De Lonlay, G. Touati, D. Martin, M. C. Nassogne, P. Castelnau, C. Sevin, C. Laborde, C. Baussan, M. Brivet, A. Vassault, D. Rabier, J. P. Bonnefont, P. Kamoun

Journal:

Journal of Inherited Metabolic Disease

Year:

2000

Language:

english

File:

PDF, 131 KB

english, 2000

147

Plasma Lysine Concentration and Availability of 2-Ketoglutarate in Liver Mitochondria

P. Kamoun, V. Richard, D. Rabier, J. M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

2002

Language:

english

File:

PDF, 132 KB

english, 2002

148

Assessing pesticide pollution risk: from field to watershed

Marie Houdart, Philippe Tixier, André Lassoudière, Frédéric Saudubray

Journal:

Agronomy for Sustainable Development

Year:

2009

Language:

english

File:

PDF, 440 KB

english, 2009

149

Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: Evidence for a Distinct peroxisomal pristanyl-CoA oxidase

H. J. ten Brink, B. T. Poll-The, J. M. Saudubray, R. J. A. Wanders, C. Jakobs

Journal:

Journal of Inherited Metabolic Disease

Year:

1991

Language:

english

File:

PDF, 300 KB

english, 1991

150

Comparaison de l’effet pharmacodynamique d’un comprimé de sulfate de morphine

R. Maranhao, F. Saudubray, Ch. Verdenne, J. L. Eychenne, Y. Lazorthes

Journal:

Douleur et Analgésie

Year:

1990

File:

PDF, 514 KB

1990