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Jean-Marie Saudubray

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Jacques Beltrand; Francis Brunelle; Marylène Caquard; Kathleen Laborde; Claire Nihoul-Fékété; Jacques Rahier; Jean-Jacques Robert; Jean-Marie Saudubray; Gilberto Velho; Virginie Verkarre; Jean-Baptiste Arnoux; Pascale de Lonlay
Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism.
Claire Douillard; Karine Mention; Jean-Marie Saudubray; Dries Dobbelaere; Jean-Louis Wemeau; Marie-Christine Vantyghem
Hypoglycaemia related to inherited metabolic diseases in adults.
Marie-Christine Vantyghem; Jean-Louis Wemeau; Dries Dobbelaere; Karine Mention; Jean-Marie Saudubray; Claire Douillard
Endocrine manifestations related to inherited metabolic diseases in adults.

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2012: Jacques Beltrand; Francis Brunelle; Marylène Caquard; Kathleen Laborde; Claire Nihoul-Fékété; Jacques Rahier; Jean-Jacques Robert; Jean-Marie Saudubray; Gilberto Velho; Virginie Verkarre; Jean-Baptiste Arnoux; Pascale de Lonlay
Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism.
Diabetes care 2012;35(2):198-203.
2012: Claire Douillard; Karine Mention; Jean-Marie Saudubray; Dries Dobbelaere; Jean-Louis Wemeau; Marie-Christine Vantyghem
Hypoglycaemia related to inherited metabolic diseases in adults.
Orphanet journal of rare diseases 2012;7():26.
2012: Marie-Christine Vantyghem; Jean-Louis Wemeau; Dries Dobbelaere; Karine Mention; Jean-Marie Saudubray; Claire Douillard
Endocrine manifestations related to inherited metabolic diseases in adults.
Orphanet journal of rare diseases 2012;7():11.
2009: Jean-Marie Saudubray
Neurometabolic disorders.
Journal of inherited metabolic disease 2009;32(5):595-6.
2008: Frédéric Sedel; Jean-Marie Saudubray; E Roze; Yves Agid; M Vidailhet
Movement disorders and inborn errors of metabolism in adults: a diagnostic approach.
Journal of inherited metabolic disease 2008;31(3):308-18.
2008: Frédéric Sedel; A Tourbah; Bertrand Fontaine; Catherine Lubetzki; Nicole Baumann; Jean-Marie Saudubray; Olivier Lyon-Caen
Leukoencephalopathies associated with inborn errors of metabolism in adults.
Journal of inherited metabolic disease 2008;31(3):295-307.
2008: Mirjam M C Wamelink; Eduard A Struys; Vassili Valayannopoulos; Marie Gonzales; Jean-Marie Saudubray; Cornelis Jakobs
Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis.
Prenatal diagnosis 2008;28(5):460-2.
2008: C Ewenczyk; A Leroux; Anne Roubergue; V Laugel; Alexandra Afenjar; Jean-Marie Saudubray; P Beauvais; Thierry Billette de Villemeur; Marie Vidailhet; Emmanuel Roze
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
Brain : a journal of neurology 2008;131(Pt 3):760-1.
2007: Frédéric Sedel; Isabelle Gourfinkel-An; Olivier Lyon-Caen; Michel Baulac; Jean-Marie Saudubray; V Navarro
Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.
Journal of inherited metabolic disease 2007;30(6):846-54.
2007: Frédéric Sedel; Bertrand Fontaine; Jean-Marie Saudubray; Olivier Lyon-Caen
Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach.
Journal of inherited metabolic disease 2007;30(6):855-64.
2007: Frédéric Sedel; Olivier Lyon-Caen; Jean-Marie Saudubray
[Treatable hereditary neuro-metabolic diseases].
Revue neurologique 2007;163(10):884-96.
2007: Frédéric Sedel; C Barnerias; O Dubourg; I Desguerres; Olivier Lyon-Caen; Jean-Marie Saudubray
Peripheral neuropathy and inborn errors of metabolism in adults.
Journal of inherited metabolic disease 2007;30(5):642-53.
2007: Frédéric Sedel; Nicole Baumann; Jean-Claude Turpin; Olivier Lyon-Caen; Jean-Marie Saudubray; David Cohen
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.
Journal of inherited metabolic disease 2007;30(5):631-41.
2007: Jean-Marie Saudubray; Daniel Rabier
Biomarkers identified in inborn errors for lysine, arginine, and ornithine.
The Journal of nutrition 2007;137(6 Suppl 2):1669S-1672S.
2007: Frédéric Sedel; Olivier Lyon-Caen; Jean-Marie Saudubray
Therapy insight: inborn errors of metabolism in adult neurology--a clinical approach focused on treatable diseases.
Nature clinical practice. Neurology 2007;3(5):279-90.
2007: Philippe Andre Jouvet; Guy Touati; Fabrice Lesage; Laurent Dupic; Marisa Tucci; Jean-Marie Saudubray; Philippe Hubert
Impact of inborn errors of metabolism on admission and mortality in a pediatric intensive care unit.
European journal of pediatrics 2007;166(5):461-5.
2006: Frédéric Sedel; M J Ribeiro; P Remy; N Blau; Jean-Marie Saudubray; Yves Agid
Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia.
Neurology 2006;67(12):2243-5.
2006: Vassili Valayannopoulos; Nanda M Verhoeven; Karine Mention; Gajja S Salomons; Danièle Sommelet; Marie Gonzales; Guy Touati; Pascale de Lonlay; Cornelis Jakobs; Jean-Marie Saudubray
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.
The Journal of pediatrics 2006;149(5):713-7.
2006: Irina Giurgea; Christine Sempoux; Christine Bellanné-Chantelot; Maria Ribeiro; Laurence Hubert; Nathalie Boddaert; Jean-Marie Saudubray; Jean-Jacques Robert; Francis Brunelle; Jacques Rahier; Francis Jaubert; Claire Nihoul-Fékété; Pascale de Lonlay
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.
The Journal of clinical endocrinology and metabolism 2006;91(10):4118-23.
2006: Angels Garcia-Cazorla; Pascale de Lonlay; Pierre Rustin; Dominique Chretien; Guy Touati; Daniel Rabier; Abdelhamid Slama; Jean-Marie Saudubray
Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients.
The Journal of pediatrics 2006;149(3):401-405.
2006: Stefan Kölker; Sven F Garbade; Cheryl R Greenberg; James V Leonard; Jean-Marie Saudubray; Antonia Ribes; H Serap Kalkanoglu; Allan M Lund; Begoña Merinero; Moacir Wajner; Mónica Troncoso; Monique Williams; John H Walter; Jaume Campistol; Milagros Martí-Herrero; Melissa Caswill; Alberto Burlina; Florian Lagler; Esther M Maier; Bernd Schwahn; Aysegul Tokatli; Ali Dursun; Turgay Coskun; Ronald A Chalmers; David M Koeller; Johannes Zschocke; Ernst Christensen; Peter Burgard; Georg F Hoffmann
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
Pediatric research 2006;59(6):840-7.
2006: Guy Touati; Vassili Valayannopoulos; Karine Mention; Pascale de Lonlay; Philippe Andre Jouvet; E Depondt; M Assoun; J C Souberbielle; Daniel Rabier; Hélène Ogier de Baulny; Jean-Marie Saudubray
Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture.
Journal of inherited metabolic disease 2006;29(2-3):288-98.
2006: Jean-Marie Saudubray; F Sedel; J H Walter
Clinical approach to treatable inborn metabolic diseases: an introduction.
Journal of inherited metabolic disease 2006;29(2-3):261-74.
2006: Jean-Marie Saudubray
[Status of lysosomal diseases amongst metabolic diseases].
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 2006;27 Suppl 1():S11-3.
2006: Lucie Hertz-Pannier; Michèle Déchaux; Martine Sinico; Sophie Emond; Valérie Cormier-Daire; Jean-Marie Saudubray; Francis Brunelle; Patrick Niaudet; Nathalie Seta; Pascale de Lonlay
Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes.
Pediatric radiology 2006;36(2):108-14.
2006: Angels García-Cazorla; Daniel Rabier; Guy Touati; Bernadette Chadefaux-Vekemans; Cécile Marsac; Pascale de Lonlay; Jean-Marie Saudubray
Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.
Annals of neurology 2006;59(1):121-7.
2005: Angels García-Cazorla; Pascale de Lonlay; Marie-Cécile Nassogne; P Rustin; Guy Touati; Jean-Marie Saudubray
Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients.
Pediatrics 2005;116(5):1170-7.
2005: Philippe Andre Jouvet; Philippe Hubert; Jean-Marie Saudubray; Daniel Rabier; Nguyen K Man
Kinetic modeling of plasma leucine levels during continuous venovenous extracorporeal removal therapy in neonates with maple syrup urine disease.
Pediatric research 2005;58(2):278-82.
2005: Irina Giurgea; Tim Ulinski; Guy Touati; Christine Sempoux; Fanny Mochel; Francis Brunelle; Jean-Marie Saudubray; Claire Fekete; Pascale de Lonlay
Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy.
Pediatrics 2005;116(1):e145-8.
2005: Fanny Mochel; Abdelhamid Slama; Guy Touati; Isabelle Desguerre; Irina Giurgea; Daniel Rabier; Michèle Brivet; Pierre Rustin; Jean-Marie Saudubray; Pascale DeLonlay
Respiratory chain defects may present only with hypoglycemia.
The Journal of clinical endocrinology and metabolism 2005;90(6):3780-5.
2005: Fanny Mochel; Pascale DeLonlay; Guy Touati; Henri Brunengraber; Renée P Kinman; Daniel Rabier; Charles R Roe; Jean-Marie Saudubray
Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.
Molecular genetics and metabolism 2005;84(4):305-12.
2005: H G M Oude Luttikhuis; Guy Touati; Daniel Rabier; M Williams; C Jakobs; Jean-Marie Saudubray
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.
Journal of inherited metabolic disease 2005;28(6):1136-8.
2005: Hélène Ogier de Baulny; Jean-François Benoist; Odile Rigal; Guy Touati; Daniel Rabier; Jean-Marie Saudubray
Methylmalonic and propionic acidaemias: management and outcome.
Journal of inherited metabolic disease 2005;28(3):415-23.
2005: Pascale de Lonlay; Irina Giurgea; Christine Sempoux; Guy Touati; Francis Jaubert; Jacques Rahier; Maria Ribeiro; Francis Brunelle; Claire Nihoul-Fékété; Jean-Jacques Robert; Jean-Marie Saudubray; Charles Stanley; Christine Bellanné-Chantelot
Dominantly inherited hyperinsulinaemic hypoglycaemia.
Journal of inherited metabolic disease 2005;28(3):267-76.
2005: Matthias R Baumgartner; Daniel Rabier; Marie-Cécile Nassogne; Jean-Louis Dufier; Jean-Paul Padovani; Pierre Kamoun; David Valle; Jean-Marie Saudubray
Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
European journal of pediatrics 2005;164(1):31-6.
2004: Antonella Peduto; Matthias R Baumgartner; Nanda M Verhoeven; Daniel Rabier; Marco Spada; Marie-Cécile Nassogne; Bwee-Tien T Poll-The; Giovanni Bonetti; Cornelis Jakobs; Jean-Marie Saudubray
Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders.
Molecular genetics and metabolism 2004;82(3):224-30.
2004: Peter A Pappas; Andreas G Tzakis; Jeffrey J Gaynor; Manuel R Carreno; Phillip Ruiz; Frans Huijing; Gary Kleiner; Daniel Rabier; Tomoaki Kato; David M Levi; Seigo Nishida; Barry Gelman; John F Thompson; Naveen Mittal; Jean-Marie Saudubray
An analysis of the association between serum citrulline and acute rejection among 26 recipients of intestinal transplant.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2004;4(7):1124-32.
2004: Peter A Pappas; Andreas G Tzakis; Jean-Marie Saudubray; Jeffrey J Gaynor; Manuel R Carreno; Frans Huijing; Gary Kleiner; Daniel Rabier; Tomoaki Kato; David M Levi; Seigo Nishida; Barry Gelman; John F Thompson; Naveen Mittal; Phillip Ruiz
Trends in serum citrulline and acute rejection among recipients of small bowel transplants.
Transplantation proceedings 2004;36(2):345-7.
2004: Pascale de Lonlay; Irina Giurgea; Jean-Jacques Robert; Jean-Christophe Fournet; Guy Touati; Claire Nihoul-Fékété; Francis Brunelle; Francis Jaubert; Jacques Rahier; Christine Sempoux; Claudine Junien; Jean-Marie Saudubray; Mark Dunne; Timo Otonkoski; Maria Ribeiro; Christine Bellané-Chantelot
Hyperinsulinemic hypoglycemia in children.
Annales d'endocrinologie 2004;65(1):96-8.
2004: Pascale de Lonlay; Irina Giurgea; Guy Touati; Jean-Marie Saudubray
Neonatal hypoglycaemia: aetiologies.
Seminars in neonatology : SN 2004;9(1):49-58.
2004: Irina Giurgea; Kathleen Laborde; Guy Touati; Christine Bellanné-Chantelot; Marie-Cécile Nassogne; Christine Sempoux; Francis Jaubert; Nguyen Khoa; Valérie Chigot; Jacques Rahier; Francis Brunelle; Claire Nihoul-Fékété; Mark J Dunne; Charles Stanley; Jean-Marie Saudubray; Jean-Jacques Robert; Pascale de Lonlay
Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.
The Journal of clinical endocrinology and metabolism 2004;89(2):925-9.
2003: Bernadette Chadefaux Vekemans; Jean-Paul Bonnefont; Joelle Aupetit; Ghislaine Royer; Véronique Droin; Tania Attié-Bitach; Jean-Marie Saudubray; Laure Thuillier
Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach.
Prenatal diagnosis 2003;23(11):884-7.
2003: Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Géraldine Viot; Alice Goldenberg; Becky Mardach; Jeanne Amiel; Philippe Saada; Yves Dumez; Francis Brunelle; Jean-Marie Saudubray; Dominique Chrétien; Agnès Rötig; Pierre Rustin; Arnold Munnich; Pascale de Lonlay
Antenatal manifestations of mitochondrial respiratory chain deficiency.
The Journal of pediatrics 2003;143(2):208-12.
2003: Carole Tonetti; Jean-Marie Saudubray; Bernard Echenne; Pierre Landrieu; Stéphane Giraudier; Jacqueline Zittoun
Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.
European journal of pediatrics 2003;162(7-8):466-75.
2003: Sandrine Haut; Michèle Brivet; Guy Touati; Pierre Rustin; Sophie Lebon; Angels Garcia-Cazorla; Jean-Marie Saudubray; Audrey Boutron; Alain Legrand; Abdelhamid Slama
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis.
Human genetics 2003;113(2):118-22.
2003: Guy Touati; Pascale DeLonlay; C Barnerias; C Beyler; Jean-Marie Saudubray
[Metabolic emergencies: late acute neurologic and psychiatric presentation].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2003;10 Suppl 1():42s-46s.
2003: Marie-Cécile Nassogne; Marie-Christine Commare; Arielle Lellouch-Tubiana; Sophie Emond; Michel ZERAH; Catherine Caillaud; Lucie Hertz-Pannier; Jean-Marie Saudubray
Unusual presentation of GM2 gangliosidosis mimicking a brain stem tumor in a 3-year-old girl.
AJNR. American journal of neuroradiology 2003;24(5):840-2.
2003: Laure Thuillier; Hidayeth Rostane; Véronique Droin; France Demaugre; Michèle Brivet; Noman Kadhom; Carina Prip-Buus; Stéphanie Gobin; Jean-Marie Saudubray; Jean-Paul Bonnefont
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
Human mutation 2003;21(5):493-501.
2003: Michèle Brivet; Angels Garcia-Cazorla; Stanislas LYONNET; Y Dumez; Marie-Cécile Nassogne; Abdelhamid Slama; Audrey Boutron; Guy Touati; Alain Legrand; Jean-Marie Saudubray
Impaired mitochondrial pyruvate importation in a patient and a fetus at risk.
Molecular genetics and metabolism 2003;78(3):186-92.
2003: Christine Sempoux; Yves Guiot; Karin Dahan; Pierre Moulin; Martine Stevens; Virginie Lambot; Pascale de Lonlay; Jean-Christophe Fournet; Claudine Junien; Francis Jaubert; Claire Nihoul-Fekete; Jean-Marie Saudubray; Jacques Rahier
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma.
Diabetes 2003;52(3):784-94.
2003: Frank Roels; Jean-Marie Saudubray; Marisa Giros; Hanna Mandel; François Eyskens; Nieves Saracibar; Begoña Atares Pueyo; Jose M Prats; Betty De Prest; Katleen De Preter; Mercedes Pineda; Pierre Krystkowiak; Jeannette Gootjes; Ronald J A Wanders; Marc Espeel; Bwee Tien Poll-The
Peroxisome mosaics.
Advances in experimental medicine and biology 2003;544():97-106.
2002: Marie-Cécile Nassogne; Mark Sharrard; Lucie Hertz-Pannier; Didier Armengaud; Guy Touati; Pascale Delonlay-Debeney; Michel ZERAH; Francis Brunelle; Jean-Marie Saudubray
Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2002;18(12):729-31.
2002: Karen E Cosgrove; Marie-Hélène Antoine; Anne T Lee; Philippa D Barnes; Pascal de Tullio; Peter Clayton; Rory McCloy; Pascal De Lonlay; Claire Nihoul-Fékété; Jean-Jacques Robert; Jean-Marie Saudubray; Jacques Rahier; Keith J Lindley; Khalid Hussain; Al Aynsley-Green; Bernard Pirotte; Philippe Lebrun; Mark J Dunne
BPDZ 154 activates adenosine 5'-triphosphate-sensitive potassium channels: in vitro studies using rodent insulin-secreting cells and islets isolated from patients with hyperinsulinism.
The Journal of clinical endocrinology and metabolism 2002;87(11):4860-8.
2002: Sandrine Vuillaumier-Barrot; Christiane Le Bizec; Pascale de Lonlay; Anne Barnier; G Mitchell; V Pelletier; C Prevost; Jean-Marie Saudubray; Geneviève Durand; Nathalie Seta
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.
Journal of medical genetics 2002;39(11):849-51.
2002: Pascale de Lonlay; Valérie Cormier-Daire; Jeanne Amiel; Guy Touati; Alice Goldenberg; Jean-Christophe Fournet; Francis Brunelle; Claire Nihoul-Fékété; Jacques Rahier; Claudine Junien; Jean-Jacques Robert; Jean-Marie Saudubray
Facial appearance in persistent hyperinsulinemic hypoglycemia.
American journal of medical genetics 2002;111(2):130-3.
2002: Pascale de Lonlay; O Fenneteau; Guy Touati; Cyril Mignot; Thierry Billette de Villemeur; Daniel Rabier; S Blanche; Hélène Ogier de Baulny; Jean-Marie Saudubray
[Hematologic manifestations of inborn errors of metabolism].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2002;9(8):822-35.
2002: 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; Richard Haas; William L Nyhan; Anne Green; George Gray; JEAN R GIRARD; Laure Thuillier
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
Human genetics 2002;111(2):179-89.
2002: P de Lonlay; Fatima Djouadi; Jean-Paul Bonnefont; Jean-Marie Saudubray; Jean Bastin
[Mitochondrial beta-oxidation of fatty acids: an essential metabolic pathway of muscular function].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2002;9 Suppl 2():175s-178s.
2002: Peter A Pappas; Jean-Marie Saudubray; Andreas G Tzakis; Daniel Rabier; Manuel R Carreno; Orlando Gomez-Marin; Frans Huijing; Barry Gelman; David M Levi; Jose R Nery; Tomoaki Kato; Naveen Mittal; Seigo Nishida; John F. Thompson; Phillip Ruiz
Serum citrulline as a marker of acute cellular rejection for intestinal transplantation.
Transplantation proceedings 2002;34(3):915-7.
2002: Pierre Kamoun; Daniel Rabier; Jean-Marie Saudubray
A risk factor for chronic mild hyperammonaemia.
European journal of pediatrics 2002;161(4):221.
2002: B Simorre; Isabelle Quéré; G Berrut; Jean-François Chassé; Hélène Bellet; Pierre Kamoun; C le Hello; Jean-Marie Saudubray; Charles Janbon
[Vascular complications of homocystinuria: a retrospective multicenter study].
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 2002;23(3):267-72.
2002: Pascale de Lonlay; Guy Touati; Jean-Jacques Robert; Jean-Marie Saudubray
Persistent hyperinsulinaemic hypoglycaemia.
Seminars in neonatology : SN 2002;7(1):95-100.
2002: Matthias R Baumgartner; Jean-Marie Saudubray
Peroxisomal disorders.
Seminars in neonatology : SN 2002;7(1):85-94.
2002: Hélène Ogier de Baulny; Jean-Marie Saudubray
Branched-chain organic acidurias.
Seminars in neonatology : SN 2002;7(1):65-74.
2002: Jean-Marie Saudubray; Marie-Cécile Nassogne; Pascale de Lonlay; Guy Touati
Clinical approach to inherited metabolic disorders in neonates: an overview.
Seminars in neonatology : SN 2002;7(1):3-15.
2002: Gérard Schaison; Isabelle Caubel; Nadia Belmatoug; Thierry Billette de Villemeur; Jean-Marie Saudubray
[French results of enzyme replacement therapy in Gaucher's disease].
Bulletin de l'Académie nationale de médecine 2002;186(5):851-61; discussion 861-3.
2002: M H Odievre; Caroline Sevin; J Laurent; J P Laboureau; Daniel Rabier; Michèle Brivet; C Roe; R J A Wanders; Jean-Marie Saudubray
Long-chain 3-hydroxyacylCoA dehydrogenase deficiency: a new case presenting with liver dysfunction, cholestasis and fibrosis.
Acta paediatrica (Oslo, Norway : 1992) 2002;91(6):719-22.
2002: Pascale de Lonlay; Jean-Christophe Fournet; Guy Touati; Marie-Sylvie Groos; Delphine Martin; Caroline Sevin; Véronique Delagne; Christine Mayaud; Valérie Chigot; Christine Sempoux; Marie-Claire Brusset; Kathleen Laborde; Christine Bellane-Chantelot; Anne Vassault; Jacques Rahier; Claudine Junien; Francis Brunelle; Claire Nihoul-Fékété; Jean-Marie Saudubray; Jean-Jacques Robert
Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases.
European journal of pediatrics 2002;161(1):37-48.
2001: Isabelle Quéré; B Simorre; Marc Ruivard; C Le Hello; F Parrot; J L Mégnien; G Touati; Jean-François Chassé; Jean-Marie Saudubray; Jacqueline Zittoun
[Homocystinuria in adulthood].
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 2001;22 Suppl 3():347s-355s.
2001: Philippe Andre Jouvet; M Jugie; Daniel Rabier; J Desgrès; Philippe Hubert; Jean-Marie Saudubray; Nguyen K Man
Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease.
Intensive care medicine 2001;27(11):1798-806.
2001: Peter A Pappas; Jean-Marie Saudubray; Andreas G Tzakis; Daniel Rabier; Manuel R Carreno; Orlando Gomez-Marin; Frans Huijing; Barry Gelman; David M Levi; Jose R Nery; Tomoaki Kato; Naveen Mittal; Seigo Nishida; John F. Thompson; Phillip Ruiz
Serum citrulline and rejection in small bowel transplantation: a preliminary report.
Transplantation 2001;72(7):1212-6.
2001: Pascale de Lonlay; Chantal Benelli; Françoise Fouque; A Ganguly; Bernard Aral; Carlo Dionisi Vici; Guy Touati; C Heinrichs; Daniel Rabier; Pierre Kamoun; Jean-Jacques Robert; Charles Stanley; Jean-Marie Saudubray
Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients.
Pediatric research 2001;50(3):353-7.
2001: Valérie Chigot; Pascale de Lonlay; Marie-Cécile Nassogne; Kathleen Laborde; V Delagne; Jean-Christophe Fournet; Claire Nihoul-Fékété; Jean-Marie Saudubray; Francis Brunelle
Pancreatic arterial calcium stimulation in the diagnosis and localisation of persistent hyperinsulinemic hypoglycaemia of infancy.
Pediatric radiology 2001;31(9):650-5.
2001: Norma B Romero; P De Lonlay; Stéphane Llense; France Leturcq; G Touati; J Andoni Urtizberea; Jean-Marie Saudubray; A Munnich; Jean-Claude Kaplan; Dominique Récan
Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin gene.
Neuromuscular disorders : NMD 2001;11(5):494-8.
2001: Jean-Christophe Fournet; C Mayaud; Pascale de Lonlay; MS Gross-Morand; Virginie Verkarre; M Castanet; Martine Devillers; Jacques Rahier; Francis Brunelle; Jean-Jacques Robert; Claire Nihoul-Fékété; Jean-Marie Saudubray; Claudine Junien
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.
The American journal of pathology 2001;158(6):2177-84.
2001: Pascale De Lonlay-Debeney; Jean-Christophe Fournet; Guy Touati; Jean-Jacques Robert; Claudine Junien; Jean-Marie Saudubray
[Hyperinsulinism].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2001;8 Suppl 2():298s-300s.
2001: F Menni; Pascale de Lonlay; Caroline Sevin; Guy Touati; C Peigné; V Barbier; Claire Nihoul-Fékété; Jean-Marie Saudubray; Jean-Jacques Robert
Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia.
Pediatrics 2001;107(3):476-9.
2000: Matthias R Baumgartner; HU CHIEN-AN; Shlomo Almashanu; Gary Steel; Cassandra Obie; Bernard Aral; Daniel Rabier; Pierre Kamoun; Jean-Marie Saudubray; David Valle
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.
Human molecular genetics 2000;9(19):2853-8.
2000: Laurence Faivre; Valérie Cormier-Daire; Dominique Chrétien; J Christoph von Kleist-Retzow; Jeanne Amiel; Marc Dommergues; Jean-Marie Saudubray; Yves Dumez; Agnès Rötig; Pierre Rustin; Arnold Munnich
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.
Prenatal diagnosis 2000;20(9):732-7.
2000: Pascale De Lonlay-Debeney; Jean-Jacques Robert; Jean-Marie Saudubray
[Molecular basis of hyperinsulinisms].
Annales d'endocrinologie 2000;61(2):139.
2000: Jean-Marie Saudubray; Pascale de Lonlay; Guy Touati; Delphine Martin; Marie-Cécile Nassogne; P Castelnau; Caroline Sevin; C Laborde; C Baussan; Michèle Brivet; Anne Vassault; Daniel Rabier; Jean-Paul Bonnefont; Pierre Kamoun
Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis.
Journal of inherited metabolic disease 2000;23(3):197-214.
2000: Laure Thuillier; Caroline Sevin; France Demaugre; Michèle Brivet; Daniel Rabier; Véronique Droin; Joelle Aupetit; N Abadi; Pierre Kamoun; Jean-Marie Saudubray; Jean-Paul Bonnefont
Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient.
Neuromuscular disorders : NMD 2000;10(3):200-5.
2000: Al Aynsley-Green; Khalid Hussain; J Hall; Jean-Marie Saudubray; Claire Nihoul-Fékété; Pascale De Lonlay-Debeney; Francis Brunelle; Timo Otonkoski; Paul Thornton; Keith J Lindley
Practical management of hyperinsulinism in infancy.
Archives of disease in childhood. Fetal and neonatal edition 2000;82(2):F98-F107.
2000: Pascale de Lonlay; V Cormier-Daire; Sandrine Vuillaumier-Barrot; Maryvonne Cuer; Geneviève Durand; A Munnich; Jean-Marie Saudubray; Nathalie Seta
[Carbohydrate-deficient blood glycoprotein syndrome].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2000;7(2):173-84.
2000: Guy Touati; E Rusthoven; E Depondt; C Dorche; M Duran; B Heron; Daniel Rabier; M Russo; Jean-Marie Saudubray
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement.
Journal of inherited metabolic disease 2000;23(1):45-53.
2000: Pascale De Lonlay-Debeney; Jürgen-Christoph von Kleist-Retzow; Lucie Hertz-Pannier; Sylviane Peudenier; Valérie Cormier-Daire; P Berquin; Dominique Chrétien; Agnès Rötig; Jean-Marie Saudubray; J Baraton; Francis Brunelle; Pierre Rustin; M Van Der Knaap; Arnold Munnich
Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.
The Journal of pediatrics 2000;136(2):209-14.
2000: Jean-Christophe Fournet; C Mayaud; Pascale de Lonlay; Virginie Verkarre; Jacques Rahier; Francis Brunelle; Jean-Jacques Robert; Claire Nihoul-Fékété; Jean-Marie Saudubray; Claudine Junien
Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinism.
Hormone research 2000;53 Suppl 1():2-6.
2000: JM Nuoffer; Pascale de Lonlay; C Costa; C R Roe; N Chamoles; Michèle Brivet; Jean-Marie Saudubray
Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency.
European journal of pediatrics 2000;159(1-2):82-5.
2000: MR Baumgartner; Gerbert Jansen; Nanda M Verhoeven; P A Mooyer; C Jakobs; Frank Roels; Marc Espeel; A Fourmaintraux; H Bellet; R J A Wanders; Jean-Marie Saudubray
Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution.
Annals of neurology 2000;47(1):109-13.
1999: Jean-Paul Bonnefont; France Demaugre; Carina Prip-Buus; Jean-Marie Saudubray; Michèle Brivet; N Abadi; Laure Thuillier
Carnitine palmitoyltransferase deficiencies.
Molecular genetics and metabolism 1999;68(4):424-40.
1999: Jean-Marie Saudubray; Guy Touati; Pascale DeLonlay; Philippe Andre Jouvet; J Schlenzig; C Narcy; J Laurent; Daniel Rabier; Pierre Kamoun; Dominique M. Jan; Yann Revillon
Liver transplantation in propionic acidaemia.
European journal of pediatrics 1999;158 Suppl 2():S65-9.
1999: Jean-Marie Saudubray; Guy Touati; Pascale DeLonlay; Philippe Andre Jouvet; C Narcy; J Laurent; Daniel Rabier; Pierre Kamoun; Dominique M. Jan; Yann Revillon
Liver transplantation in urea cycle disorders.
European journal of pediatrics 1999;158 Suppl 2():S55-9.
1999: C Rouillac; Bernard Aral; Françoise Fouque; Dominique Marchant; Jean-Marie Saudubray; Y Dumez; G Lindsay; marc Mordekhaï ABITBOL; Jean-Louis Dufier; Cécile Marsac; Chantal Benelli
First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex.
Prenatal diagnosis 1999;19(12):1160-4.
1999: Damien Bonnet; D Martin; Elisabeth Villain; Philippe Andre Jouvet; Daniel Rabier; Michèle Brivet; Jean-Marie Saudubray
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children.
Circulation 1999;100(22):2248-53.
1999: Pascale de Lonlay; Maryvonne Cuer; Sandrine Vuillaumier-Barrot; G Beaune; P Castelnau; M Kretz; Geneviève Durand; Jean-Marie Saudubray; Nathalie Seta
Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.
The Journal of pediatrics 1999;135(3):379-83.
1999: Jean-Marie Saudubray; Delphine Martin; Pascale de Lonlay; Guy Touati; F Poggi-Travert; D Bonnet; Philippe Andre Jouvet; M Boutron; Abdelhamid Slama; Christine Vianey-Saban; Jean-Paul Bonnefont; Daniel Rabier; Pierre Kamoun; Michèle Brivet
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
Journal of inherited metabolic disease 1999;22(4):488-502.
1999: Michèle Brivet; Audrey Boutron; Abdelhamid Slama; C Costa; Laure Thuillier; France Demaugre; Daniel Rabier; Jean-Marie Saudubray; Jean-Paul Bonnefont
Defects in activation and transport of fatty acids.
Journal of inherited metabolic disease 1999;22(4):428-41.
1999: C Costa; J M Costa; JM Nuoffer; Abdelhamid Slama; Audrey Boutron; Jean-Marie Saudubray; Alain Legrand; Michèle Brivet
Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency.
Journal of inherited metabolic disease 1999;22(3):267-70.
1999: Pascale De Lonlay-Debeney; F Poggi-Travert; Jean-Christophe Fournet; C Sempoux; C D Vici; Francis Brunelle; Guy Touati; Jacques Rahier; Claudine Junien; Claire Nihoul-Fékété; Jean-Jacques Robert; Jean-Marie Saudubray
Clinical features of 52 neonates with hyperinsulinism.
The New England journal of medicine 1999;340(15):1169-75.
1999: Pascale De Lonlay-Debeney; P Edery; Valérie Cormier-Daire; B Parfait; Dominique Chrétien; Agnès Rötig; N Romero; Jean-Marie Saudubray; Arnold Munnich; Pierre Rustin
Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood.
Neuropediatrics 1999;30(1):42-4.
1999: Christine Bodemer; Agnès Rötig; Pierre Rustin; V Cormier; Patrick Niaudet; Jean-Marie Saudubray; Daniel Rabier; Arnold Munnich; Yves de Prost
Hair and skin disorders as signs of mitochondrial disease.
Pediatrics 1999;103(2):428-33.
1999: Hélène Ogier de Baulny; Isabelle Husson; Pierre Castelnau; Jean-Marie Saudubray
[Diagnosis of states of ketosis in pediatrics].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1999;6 Suppl 2():500s-501s.
1999: B Parfait; Pascale de Lonlay; Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Dominique Chrétien; Agnès Rötig; Daniel Rabier; Jean-Marie Saudubray; Pierre Rustin; Arnold Munnich
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.
European journal of pediatrics 1999;158(1):55-8.
1998: Pascale De Lonlay-Debeney; Jean-Christophe Fournet; D Martin; F Poggi; C Dionisi Vicci; M Spada; Guy Touati; Jacques Rahier; Francis Brunelle; Claudine Junien; Jean-Jacques Robert; Claire Nihoul-Fékété; Jean-Marie Saudubray
[Persistent hyperinsulinemic hypoglycemia in the newborn and infants].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1998;5(12):1347-52.
1998: MR Baumgartner; Bwee Tien Poll-The; Nanda M Verhoeven; C Jakobs; Marc Espeel; Frank Roels; Daniel Rabier; T Levade; M O Rolland; M Martinez; R J A Wanders; Jean-Marie Saudubray
Clinical approach to inherited peroxisomal disorders: a series of 27 patients.
Annals of neurology 1998;44(5):720-30.
1998: MR Baumgartner; Nanda M Verhoeven; C Jakobs; Frank Roels; Marc Espeel; M Martinez; Daniel Rabier; R J A Wanders; Jean-Marie Saudubray
Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease.
Neurology 1998;51(5):1427-32.
1998: Pierre VABRES; Caroline Sevin; JC Amoric; Marie-Hélène Odièvre; Jean-Marie Saudubray; Yves de Prost
[Skin manifestations of protein glycosylation deficiency, the CDG (carbohydrate deficient glycoprotein) type 1 syndrome].
Annales de dermatologie et de vénéréologie 1998;125(10):715-6.
1998: Virginie Verkarre; Jean-Christophe Fournet; Pascale de Lonlay; MS Gross-Morand; Martine Devillers; Jacques Rahier; Francis Brunelle; Jean-Jacques Robert; Claire Nihoul-Fékété; Jean-Marie Saudubray; Claudine Junien
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
The Journal of clinical investigation 1998;102(7):1286-91.
1998: Guy Touati; F Poggi-Travert; Hélène Ogier de Baulny; Jacques Rahier; Francis Brunelle; Claire Nihoul-Fekete; P Czernichow; Jean-Marie Saudubray
Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria.
European journal of pediatrics 1998;157(8):628-33.
1998: Daniel Rabier; C Diry; A Rotig; Pierre Rustin; B Heron; J Bardet; P Parvy; Gérard Ponsot; Cécile Marsac; Jean-Marie Saudubray; Arnold Munnich; Pierre Kamoun
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
Journal of inherited metabolic disease 1998;21(3):216-9.
1998: Christine Sempoux; Yves Guiot; D Dubois; MC Nollevaux; Jean-Marie Saudubray; Claire Nihoul-Fekete; Jacques Rahier
Pancreatic B-cell proliferation in persistent hyperinsulinemic hypoglycemia of infancy: an immunohistochemical study of 18 cases.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 1998;11(5):444-9.
1998: Christine Sempoux; Yves Guiot; A Lefevre; C Nihoul-Fékété; Francis Jaubert; Jean-Marie Saudubray; Jacques Rahier
Neonatal hyperinsulinemic hypoglycemia: heterogeneity of the syndrome and keys for differential diagnosis.
The Journal of clinical endocrinology and metabolism 1998;83(5):1455-61.
1998: Hélène Ogier de Baulny; M Gérard; Jean-Marie Saudubray; J Zittoun
Remethylation defects: guidelines for clinical diagnosis and treatment.
European journal of pediatrics 1998;157 Suppl 2():S77-83.
1998: Jean-Christophe Fournet; Virginie Verkarre; Pascale de Lonlay; Jacques Rahier; Francis Brunelle; Jean-Jacques Robert; Claire Nihoul-Fékété; Jean-Marie Saudubray; Claudine Junien
Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia.
Annales d'endocrinologie 1998;59(6):485-91.
1998: Jean-Marie Saudubray; JM Nuoffer; Pascale de Lonlay; P Castelnau; Guy Touati
[Hereditary metabolic diseases in adults].
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 1998;19 Suppl 3():366S-375S.
1998: Pierre Kamoun; Bernard Aral; Jean-Marie Saudubray
[A new inherited metabolic disease: delta1-pyrroline 5-carboxylate synthetase deficiency].
Bulletin de l'Académie nationale de médecine 1998;182(1):131-7; discussion 138-9.
1998: Jacques Rahier; Christine Sempoux; J C Fournet; F Poggi; Francis Brunelle; Claire Nihoul-Fekete; Jean-Marie Saudubray; Francis Jaubert
Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role.
Histopathology 1998;32(1):15-9.
1997: Pascale de Lonlay; Jean-Christophe Fournet; Jacques Rahier; MS Gross-Morand; F Poggi-Travert; V Foussier; J P Bonnefont; Marie-Claire Brusset; Francis Brunelle; Jean-Jacques Robert; Claire Nihoul-Fékété; Jean-Marie Saudubray; Claudine Junien
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.
The Journal of clinical investigation 1997;100(4):802-7.
1997: Philippe Andre Jouvet; F Poggi; Daniel Rabier; Jean-Luc Michel; Philippe Hubert; M Sposito; Jean-Marie Saudubray; Nguyen K Man
Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease.
Journal of inherited metabolic disease 1997;20(4):463-72.
1997: Cécile Marsac; Chantal Benelli; Isabelle Desguerre; M Diry; Françoise Fouque; Linda De Meirleir; Gérard Ponsot; Sara Seneca; F Poggi; Jean-Marie Saudubray; Marie-Thérèse Zabot; D Fontan; Willy Lissens
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.
Human genetics 1997;99(6):785-92.
1996: Abdelhamid Slama; Michèle Brivet; Audrey Boutron; A Legrand; Jean-Marie Saudubray; France Demaugre
Complementation analysis of carnitine palmitoyltransferase I and II defects.
Pediatric research 1996;40(4):542-6.
1996: A Munnich; Agnès Rötig; Dominique Chretien; Jean-Marie Saudubray; V Cormier; Pierre Rustin
Clinical presentations and laboratory investigations in respiratory chain deficiency.
European journal of pediatrics 1996;155(4):262-74.
1996: S B van der Meer; F Poggi; Marco Spada; Jean-Paul Bonnefont; H Ogier; Philippe Hubert; E Depondt; D Rapoport; Daniel Rabier; C Charpentier; P Parvy; J Bardet; Pierre Kamoun; Jean-Marie Saudubray
Clinical outcome and long-term management of 17 patients with propionic acidaemia.
European journal of pediatrics 1996;155(3):205-10.
1996: V Geoffroy; Françoise Fouque; Chantal Benelli; F Poggi; Jean-Marie Saudubray; Willy Lissens; L D Meirleir; Cécile Marsac; J Gordon Lindsay; S J Sanderson
Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia.
Pediatrics 1996;97(2):267-72.
1996: B Ségues; P S Veber; Daniel Rabier; Patrick Calvas; Jean-Marie Saudubray; B Gilbert-Dussardier; Jean-Paul Bonnefont; Arnold Munnich
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
Human mutation 1996;8(4):373-4.
1996: A Munnich; Agnès Rötig; Dominique Chretien; V Cormier; Thomas Bourgeron; Jean-Paul Bonnefont; Jean-Marie Saudubray; Pierre Rustin
Clinical presentation of mitochondrial disorders in childhood.
Journal of inherited metabolic disease 1996;19(4):521-7.
1996: F Poggi-Travert; D Martin; T Billette de Villemeur; Jean-Paul Bonnefont; A Vassault; Daniel Rabier; C Charpentier; Pierre Kamoun; Arnold Munnich; Jean-Marie Saudubray
Metabolic intermediates in lactic acidosis: compounds, samples and interpretation.
Journal of inherited metabolic disease 1996;19(4):478-88.
1996: T Billette de Villemeur; Pascale de Lonlay; F Poggi-Travert; D Martin; J M Launay; Arnold Munnich; Jean-Marie Saudubray
[Monoamine decarboxylase deficiency].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1996;3 Suppl 1():167s-168s.
1996: Hélène Ogier de Baulny; F Poggi-Travert; M Besnard; Jean-Marie Saudubray
[Protein glycosylation deficiency: clinical presentation].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1996;3 Suppl 1():158s-160s.
1996: Michèle Brivet; Abdelhamid Slama; D S Millington; C R Roe; France Demaugre; A Legrand; Audrey Boutron; F Poggi; Jean-Marie Saudubray
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.
Journal of inherited metabolic disease 1996;19(2):181-4.
1995: Christine Sempoux; F Poggi; Francis Brunelle; Jean-Marie Saudubray; C Fekete; Jacques Rahier
Nesidioblastosis and persistent neonatal hyperinsulinism.
Diabète & métabolisme 1995;21(6):402-7.
1995: Michèle Brivet; Abdelhamid Slama; Jean-Marie Saudubray; A Legrand; A Lemonnier
Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes.
Annals of clinical biochemistry 1995;32 ( Pt 2)():154-9.
1995: Philippe Andre Jouvet; F Poggi; Jean-Marie Saudubray
Continuous venovenous haemofiltration in the acute treatment of inborn errors of metabolism.
Pediatric nephrology (Berlin, Germany) 1995;9(1):127.
1995: Jacques Rahier; Christine Sempoux; F Poggi; Francis Brunelle; Jean-Marie Saudubray; C Fekete
[Nesidioblastosis and persistent neonatal hyperinsulinism].
Journées annuelles de diabétologie de l'Hôtel-Dieu 1995;():73-82.
1995: Daniel Rabier; J Bardet; P Parvy; F Poggi; Michèle Brivet; Jean-Marie Saudubray; Pierre Kamoun
Do criteria exist from urinary organic acids to distinguish beta-oxidation defects?
Journal of inherited metabolic disease 1995;18(2):257-60.
1995: J S Schlenzig; F Poggi-Travert; J Laurent; Daniel Rabier; Dominique M. Jan; U Wendel; A C Sewell; Yann Revillon; Pierre Kamoun; Jean-Marie Saudubray
Liver transplantation in two cases of propionic acidaemia.
Journal of inherited metabolic disease 1995;18(4):448-61.
1994: Linda De Meirleir; Willy Lissens; Chantal Benelli; Gérard Ponsot; Isabelle Desguerre; Cécile Marsac; D Rodriguez; Jean-Marie Saudubray; F Poggi; Inge Liebaers
Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy.
Pediatric research 1994;36(6):707-12.
1994: J Amiel; V Gagey; Daniel Rabier; C Dorche; J P Bonnefont; J L Dufier; Jean-Marie Saudubray; J Rey; A Munnich
[Sulfite oxidase deficiency presenting as Leigh syndrome].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1994;1(11):1023-7.
1994: F Poggi-Travert; B Héron; T Billette de Villemeur; M Spada; Philippe Andre Jouvet; C Charpentier; Daniel Rabier; Pierre Kamoun; Jean-Marie Saudubray
[Diagnosis of metabolic coma in children].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1994;1(9):843-51.
1994: Marco Spada; O Guardamagna; Daniel Rabier; S B van der Meer; P Parvy; J Bardet; Alberto Ponzone; Jean-Marie Saudubray
Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests.
The Journal of pediatrics 1994;125(2):249-51.
1994: J C Netter; G Cossarizza; C Narcy; Philippe Hubert; H Ogier; Yann Revillon; Daniel Rabier; Jean-Marie Saudubray
[Mid-term outcome of 2 cases with maple syrup urine disease: role of liver transplantation in the treatment].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1994;1(8):730-4.
1994: Christine Bodemer; Yves de Prost; B Bachollet; F Poggi; Dominique Teillac-Hamel; Sylvie Fraitag; Jean-Marie Saudubray
Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases.
The British journal of dermatology 1994;131(1):93-8.
1994: F Poggi; Daniel Rabier; A Vassault; C Charpentier; Pierre Kamoun; Jean-Marie Saudubray
[Protocol of metabolic investigations in hereditary metabolic diseases].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1994;1(7):667-73.
1994: Dominique Chretien; Pierre Rustin; Thomas Bourgeron; Agnès Rötig; Jean-Marie Saudubray; Arnold Munnich
Reference charts for respiratory chain activities in human tissues.
Clinica chimica acta; international journal of clinical chemistry 1994;228(1):53-70.
1994: Pierre Rustin; Dominique Chretien; Thomas Bourgeron; B Gérard; Agnès Rötig; Jean-Marie Saudubray; Arnold Munnich
Biochemical and molecular investigations in respiratory chain deficiencies.
Clinica chimica acta; international journal of clinical chemistry 1994;228(1):35-51.
1994: P Edery; B Gérard; Dominique Chretien; Agnès Rötig; R Cerrone; D Rabier; C Rambaud; M Fabre; Jean-Marie Saudubray; Arnold Munnich
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure.
European journal of pediatrics 1994;153(3):190-4.
1994: Dominique M. Jan; F Poggi; J Laurent; Daniel Rabier; Philippe Andre Jouvet; Florence Lacaille; A Beringer; Philippe Hubert; Yann Revillon; Jean-Marie Saudubray
Liver transplantation: new indications in metabolic disorders?
Transplantation proceedings 1994;26(1):189-90.
1994: Dominique M. Jan; F Poggi; Philippe Andre Jouvet; Daniel Rabier; J Laurent; A Beringer; Philippe Hubert; Jean-Marie Saudubray; Yann Revillon
Definitive cure of hyperammonemia by liver transplantation in urea cycle defects: report of three cases.
Transplantation proceedings 1994;26(1):188.
1994: Michèle Brivet; Abdelhamid Slama; H Ogier; Audrey Boutron; France Demaugre; Jean-Marie Saudubray; A Lemonnier
Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.
Journal of inherited metabolic disease 1994;17(3):271-4.
1994: Pierre Kamoun; P Parvy; Daniel Rabier; J Bardet; T Billette de Villemeur; Jean-Marie Saudubray
Dicarboxylic aminoaciduria.
Journal of inherited metabolic disease 1994;17(6):758.
1993: S V Pande; Michèle Brivet; Abdelhamid Slama; France Demaugre; C Aufrant; Jean-Marie Saudubray
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.
The Journal of clinical investigation 1993;91(3):1247-52.
1993: Agnès Rötig; V Cormier; P Chatelain; R Francois; Jean-Marie Saudubray; Pierre Rustin; Arnold Munnich
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).
The Journal of clinical investigation 1993;91(3):1095-8.
1993: Agnès Rötig; V Cormier; P Chatelain; R Francois; Jean-Marie Saudubray; Pierre Rustin; Arnold Munnich
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome).
Journal of inherited metabolic disease 1993;16(3):527-30.
1992: R J Wanders; Lodewijk IJlst; F Poggi; Jean-Paul Bonnefont; A Munnich; Michèle Brivet; Daniel Rabier; Jean-Marie Saudubray
Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.
Biochemical and biophysical research communications 1992;188(3):1139-45.
1992: F Rey; Véronique Abadie; Stanislas LYONNET; M Berthelon; C Caillaud; D Melle; P Labrune; Jean-Marie Saudubray; Arnold Munnich; J Rey
[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].
Archives françaises de pédiatrie 1992;49(8):705-10.
1992: Agnès Rötig; J L Bessis; N Romero; V Cormier; Jean-Marie Saudubray; P Narcy; G Lenoir; Pierre Rustin; Arnold Munnich
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.
American journal of human genetics 1992;50(2):364-70.
1992: Daniel Rabier; P Parvy; J Bardet; Jean-Marie Saudubray; Pierre Kamoun
Alloisoleucine in isovaleric acidaemia.
Journal of inherited metabolic disease 1992;15(1):154-5.
1991: Agnès Rötig; V Cormier; F Koll; C E Mize; Jean-Marie Saudubray; A Veerman; H A Pearson; Arnold Munnich
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.
Genomics 1991;10(2):502-4.
1991: V Cormier; A Rotig; M Tardieu; M Colonna; Jean-Marie Saudubray; Arnold Munnich
Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.
American journal of human genetics 1991;48(4):643-8.
1991: Daniel Rabier; C Narcy; J Bardet; P Parvy; Jean-Marie Saudubray; Pierre Kamoun
Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficiencies.
Journal of inherited metabolic disease 1991;14(3):277-80.
1990: Jean-Paul Bonnefont; N B Specola; A Vassault; A Lombes; H Ogier; J B de Klerk; Arnold Munnich; M Coude; M Paturneau-Jouas; Jean-Marie Saudubray
The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states.
European journal of pediatrics 1990;150(2):80-5.
1990: Agnès Rötig; V Cormier; Stéphane Blanche; Jean-Paul Bonnefont; F Ledeist; N Romero; J Schmitz; Pierre Rustin; A Fischer; Jean-Marie Saudubray
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.
The Journal of clinical investigation 1990;86(5):1601-8.
1990: V Cormier; Agnès Rötig; A R Quartino; G L Forni; R Cerone; M Maier; Jean-Marie Saudubray; A Munnich
Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.
The Journal of pediatrics 1990;117(4):599-602.
1990: P Parvy; Daniel Rabier; J Boue; Jean-Marie Saudubray; Pierre Kamoun
Glycine/serine ratio and the prenatal diagnosis of non-ketotic hyperglycinaemia.
Prenatal diagnosis 1990;10(5):303-5.
1990: Jean-Marie Saudubray; H Ogier; Jean-Paul Bonnefont; A Munich; A Lombes; F Hervé; G Mitchel; B Poll The; N Specola; B Parvy
[Clinical approach to hereditary metabolic disorders in neonates. Review of 20 years' experience].
Ceskoslovenská pediatrie 1990;45(1):1-6.
1990: G Cheron; C Rambaud; Jean-Paul Bonnefont; C Rouzioux; J Lavaud; Jean-Marie Saudubray; C Nezelof
[Sudden infant death syndrome].
Annales de pédiatrie 1990;37(1):9-12.
1990: Anna Pelet; A Rotig; Catherine Bonaïti-Pellié; Daniel Rabier; V Cormier; E Toumas; D Hentzen; Jean-Marie Saudubray; Arnold Munnich
Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.
Human genetics 1990;84(2):167-71.
1989: Daniel Rabier; A Benoit; F Petit; A Chekoury; Jean-Paul Bonnefont; Jean-Marie Saudubray; Pierre Kamoun
Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity.
Clinica chimica acta; international journal of clinical chemistry 1989;186(1):25-9.
1989: Jean-Marie Saudubray; S Lyonnet; A Lombes; F Hervé; Jean-Paul Bonnefont; Arnold Munnich; H Ogier
[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset].
Journal de génétique humaine 1989;37(4-5):299-310.
1989: Jean-Marie Saudubray; H Ogier; Jean-Paul Bonnefont; Arnold Munnich; A Lombes; F Hervé; G Mitchel; B P Thé; N Specola; P Parvy
Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey.
Journal of inherited metabolic disease 1989;12 Suppl 1():25-41.
1989: M Coude; Jean-Paul Bonnefont; C Charpentier; B Chadefaux; Jean-Marie Saudubray; Pierre Kamoun
Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis.
Journal of inherited metabolic disease 1989;12(1):95-6.
1989: P Tardy; P Parvy; C Charpentier; Jean-Paul Bonnefont; Jean-Marie Saudubray; Pierre Kamoun
Attempt at therapy in sulphite oxidase deficiency.
Journal of inherited metabolic disease 1989;12(1):94-5.
1988: F Rey; M Berthelon; C Caillaud; Stanislas LYONNET; Véronique Abadie; F Blandin-Savoja; J Feingold; Jean-Marie Saudubray; J Frézal; Arnold Munnich
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.
American journal of human genetics 1988;43(6):914-21.
1988: H Ogier; A Lombes; H R Scholte; B T Poll-The; M Fardeau; J Alcardi; B Vignes; P Niaudet; Jean-Marie Saudubray
de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency.
The Journal of pediatrics 1988;112(5):734-9.
1987: Jean-Marie Saudubray; F Rey; H Ogier; Véronique Abadie; J P Farriaux; J Ghisolfi; P Guibaud; J Rey; M Vidailhet
Intellectual and school performances in early-treated classical PKU patients. The French collaborative study.
European journal of pediatrics 1987;146 Suppl 1():A20-2.
1987: A Lombes; H Ogier; Jean-Paul Bonnefont; Arnold Munnich; Jean-Marie Saudubray
[Research methods in metabolic myopathies in children].
Annales de médecine interne 1987;138(6):441-3.
1987: Jean-Marie Saudubray; N Specola; B Middleton; A Lombes; Jean-Paul Bonnefont; C Jakobs; A Vassault; C Charpentier; R Day
Hyperketotic states due to inherited defects of ketolysis.
Enzyme 1987;38(1-4):80-90.
1986: C Charpentier; M Coude; J L Perignon; A Lombes; Jean-Marie Saudubray; P Divry
A new case of methylmalonic aciduria with unexplained negative urinary methylmalonic colorimetric test.
Journal of inherited metabolic disease 1986;9(4):408-9.
1985: C Augereau; D Pham Dinh; A Moncion; C Marsac; Jean-Marie Saudubray; B H Robinson
Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts.
Journal of inherited metabolic disease 1985;8(2):59-62.
1984: Jean-Marie Saudubray; H Ogier; C Charpentier; E Depondt; F X Coudé; A Munnich; G Mitchell; F Rey; J Rey; J Frézal
Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update.
Journal of inherited metabolic disease 1984;7 Suppl 1():2-9.
1983: M Gaudry; A Munnich; Jean-Marie Saudubray; H Ogier; G Mitchell; C Marsac; M Causse; Andrée Marquet; J Frezal
Deficient liver biotinidase activity in multiple carboxylase deficiency.
Lancet 1983;2(8346):397.
1983: F X Coudé; G Grimber; P Parvy; D Pham Dinh; J Bardet; Jean-Marie Saudubray
Characterization of enzymatic deficiencies of branched chain amino-acid catabolism in human fibroblasts by genetic complementation.
Biochemical and biophysical research communications 1983;114(1):175-82.
1983: C Marsac; M Gaudry; C Augereau; A Moncion; Jean-Marie Saudubray; F X Coudé; A Munnich
Biotin dependent carboxylase activities in normal human and multicarboxylase deficient patient fibroblasts: relationship to the biotin content of the culture medium.
Clinica chimica acta; international journal of clinical chemistry 1983;129(2):119-28.
1983: D Rapoport; Jean-Marie Saudubray; H Ogier; A Hatt; J Berges; E Depondt; C Charpentier; J Frézal
[Psychological prospects and scholastic performance of 33 children with early diagnosis of hyperphenylalaninemia].
Archives françaises de pédiatrie 1983;40 Suppl 1():273-9.
1983: D Rapoport; E Depondt; Jean-Marie Saudubray
[Diet therapy in phenylketonuria. Psychological aspects].
Archives françaises de pédiatrie 1983;40 Suppl 1():265-7.
1983: E Depondt; H Ogier; A Munnich; Jean-Marie Saudubray
[Phenylalanine-restricted diet. The portion-by-weight system].
Archives françaises de pédiatrie 1983;40 Suppl 1():251-6.
1983: H Ogier; E Depondt; A Munnich; Jean-Marie Saudubray
[Phenylalanine-restricted diet: the substitutes].
Archives françaises de pédiatrie 1983;40 Suppl 1():247-50.
1982: Jean-Marie Saudubray; O Amédée-Manesme; A Munnich; H Ogier; E Depondt; C Charpentier; F X Coudé; F Rey; J Frézal
[Heterogeneity of leucinosis. Correlations between clinical manifestations, protein tolerance and enzyme deficiency].
Archives françaises de pédiatrie 1982;39 Suppl 2():735-40.
1982: M Zamboni; M Gaudry; Andrée Marquet; A Munnich; Jean-Marie Saudubray; C Marsac
Search for the biochemical basis of biotin dependent multiple carboxylase deficiencies: determination of biotin activation in cultured fibroblasts.
Clinica chimica acta; international journal of clinical chemistry 1982;122(2):241-8.
1982: Jean-Marie Saudubray; F X Coudé; H Ogier; L Cathelineau; P Briand; C Charpentier
Hyperammonemia secondary to hereditary organic acidurias: a study of 29 cases.
Advances in experimental medicine and biology 1982;153():135-40.
1982: Jean-Marie Saudubray; H Ogier; C Charpentier; O Amedée-Manesme; F X Coudé; J Frézal
Acute and long-term management of infants with aminoacidopathies and organic acidurias.
Progress in clinical and biological research 1982;103 Pt B():589-96.
1982: F X Coude; H Ogier; G Grimber; P Parvy; D Pham Dinh; C Charpentier; Jean-Marie Saudubray
Correlation between blood ammonia concentration and organic acid accumulation in isovaleric and propionic acidemia.
Pediatrics 1982;69(1):115-7.
1982: F X Coude; H Ogier; A Munnich; C Marsac; C Charpentier; Jean-Marie Saudubray
Defective insulin response to intravenous glucose in congenital lactic acidosis.
Pediatric research 1982;16(1):85.
1982: A Munnich; Jean-Marie Saudubray; J Taylor; C Charpentier; C Marsac; F Rocchiccioli; O Amedee-Manesme; F X Coude; J Frezal; B H Robinson
Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency.
Acta paediatrica Scandinavica 1982;71(1):167-71.
1981: F X Coude; H Ogier; C Charpentier; L Cathelineau; G Grimber; P Parvy; Jean-Marie Saudubray; J Frezal
[Lysinuric protein intolerance: a severe hyperammonemia secondary to l-arginine deficiency (author's transl)]].
Archives françaises de pédiatrie 1981;38 Suppl 1():829-35.
1981: F X Coude; H Ogier; C Marsac; A Munnich; C Charpentier; Jean-Marie Saudubray
Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency.
Pediatrics 1981;68(6):914.
1981: L Cathelineau; D Pham Dinh; J Boué; Jean-Marie Saudubray; J P Farriaux; P Kamoun
Improved method for the antenatal diagnosis of citrullinemia.
Clinica chimica acta; international journal of clinical chemistry 1981;116(1):111-5.
1981: A Munnich; Jean-Marie Saudubray; A Cotisson; F X Coudĕ; H Ogier; C Charpentier; C Marsac; G Carrĕ; M Bourgeay-Causse; J Frĕzal
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis.
European journal of pediatrics 1981;137(2):203-6.
1981: L Cathelineau; P Briand; H Ogier; C Charpentier; F X Coude; Jean-Marie Saudubray
Occurrence of hyperammonemia in the course of 17 cases of methylmalonic acidemia.
The Journal of pediatrics 1981;99(2):279-80.
1981: A Munnich; Jean-Marie Saudubray; G Carré; F X Coudé; H Ogier; C Charpentier; J Frézal
Defective biotin absorption in multiple carboxylase deficiency.
Lancet 1981;2(8240):263.
1981: A Munnich; Jean-Marie Saudubray; H Ogier; F X Coude; C Marsac; F Roccichioli; J C Labarthe; C Cazenave; J Laugier; C Charpentier; J Frézal
[Multiple biotin-dependent carboxylase deficiencies (author's transl)].
Archives françaises de pédiatrie 1981;38(2):83-90.
1981: F X Coude; H Ogier; C Charpentier; G Thomassin; A Checoury; O Amedee-Manesme; Jean-Marie Saudubray; J Frezal
Neonatal glutaric aciduria type II: an X-linked recessive inherited disorder.
Human genetics 1981;59(3):263-5.
1980: A Munnich; Jean-Marie Saudubray; F X Coude; C Charpentier; J H Saurat; J Frezal
Fatty-acid-responsive alopecia in multiple carboxylase deficiency.
Lancet 1980;1(8177):1080-1.
1980: A Munnich; Jean-Marie Saudubray; H Ogier; C Marsac; C Charpentier; J Frezal
[Alopecia, chronic candidodis, mental retardation and repeated ketoacidosic comas curable by biotin administration: multiple carboxylases deficiency (author's transl)].
Annales de médecine interne 1980;131(7):435-7.
1980: Jean-Marie Saudubray; C Charpentier; F X Coude; H Ogier; D Pham Dinh; K Bartlett; D Gompertz
[Prognosis of congenital methylmalonic aciduria. Correlations between tolerance to proteins, response to vitamin B12 and enzymatic defect (author's transl)].
Archives françaises de pédiatrie 1980;37 Suppl 2():IX-XIV.