J.M. Saudubray: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

51

Inborn Metabolic Diseases || Nonketotic Hyperglycinaemia (Glycine Encephalopathy)

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

Year:

2012

Language:

english

File:

PDF, 326 KB

english, 2012

52

Kinetic Modeling of Plasma Leucine Levels during Continuous Venovenous Extracorporeal Removal Therapy in Neonates with Maple Syrup Urine Disease

Jouvet, Philippe, Hubert, Philippe, Saudubray, Jean Marie, Rabier, Daniel, Man, Nguyen K

Journal:

Pediatric Research

Year:

2005

Language:

english

File:

PDF, 300 KB

english, 2005

53

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

54

Brain uptake of11C-methionine in phenylketonuria

D. Comar, J. M. Saudubray, A. Duthiellul, J. Delforge, M. Maziere, G. Berger, C. Charpentier, A. Todd-Pokropek, M. Crouzel, E. Depondt

Journal:

European Journal of Pediatrics

Year:

1981

Language:

english

File:

PDF, 776 KB

english, 1981

55

Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction

B. T. Poll-The, J. M. Saudubray, H. Ogier, R. B. H. Schutgens, R. J. A. Wanders, G. Schrakamp, H. van den Bosch, J. M. F. Trijbels, A. Poulos, H. W. Moser, J. van Eldere, H. J. Eyssen

Journal:

Journal of Inherited Metabolic Disease

Year:

1986

Language:

english

File:

PDF, 457 KB

english, 1986

56

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

57

Déficit en monoamine décarboxylase

T Billette de Villemeur, P de Lonlay, F Poggi-Traver, D Martin, JM Launay, A Munnich, JM Saudubray

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 132 KB

1996

58

L'enfant et son médecin

F. de Paillerets, M. Dehan, F. Beaufils, J. Badoual, J.M. Saudubray

Journal:

Archives de Pédiatrie

Year:

1995

File:

PDF, 1.02 MB

1995

59

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

60

L'insuffisance cardiaque en France : Enquête nationale auprès des médecins généralistes du réseau Sentinelles

T. Saudubray, G. Jondeau, I. Hiar, J. Prinseau, A. Baglin, A. Flahault, T. Hanslik

Journal:

La Revue de Médecine Interne

Year:

2003

File:

PDF, 2.04 MB

2003

61

Étude du tracé des premiers jours de vie dans les amino-acidopathies

J. Mises, F. Moussalli, P. Plouin, J.M. Saudubray

Journal:

Revue d'Electroencéphalographie et de Neurophysiologie Clinique

Year:

1977

File:

PDF, 286 KB

1977

62

Impaired mitochondrial pyruvate importation in a patient and a fetus at risk

M Brivet, A Garcia-Cazorla, S Lyonnet, Y Dumez, M.C Nassogne, A Slama, A Boutron, G Touati, A Legrand, J.M Saudubray

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 161 KB

english, 2003

63

Congenital anomalies in glutaric aciduria type 2

G. Mitchell, J.M. Saudubray, M.C. Gubler, R. Habib, H. Ogier, J. Frezal, J. Boue

Journal:

The Journal of Pediatrics

Year:

1984

Language:

english

File:

PDF, 86 KB

english, 1984

64

P4-4 L’insuffisance cardiaque en France : enquête nationale auprès des médecins généralistes du Réseau Sentinelles

Saudubray, T., Jondeau, G., Laueriere, L., Prinseau, J., Baglin, A., Flahault, A., Hanslik, T.

Journal:

Revue d'Épidémiologie et de Santé Publique

Year:

2004

Language:

french

File:

PDF, 35 KB

french, 2004

65

Are controlled release morphine tablets (Moscontin®)suitable for titrating the dose of morphine in far advanced cancer pain? a french multicentric study

Krakowski, I., Poulain, P., Lakdja, F., Meynadier, J., Petot, P., Salamagne, M., Hauseux, P., Saudubray, F., Bonny, N., Eychenne, J.L.

Journal:

Year:

1990

Language:

english

File:

PDF, 127 KB

english, 1990

66

Evidence of Carotid Artery Wall Hypertrophy in Homozygous Homocystinuria

Megnien, J.-L., Gariepy, J., Saudubray, J.-M., Nuoffer, J.-M., Denarie, N., Levenson, J., Simon, A.

Journal:

Year:

1998

Language:

english

File:

PDF, 109 KB

english, 1998

67

Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Coutelier, Marie, Mochel, Fanny, Saudubray, Jean-Marie, Ottolenghi, Chris, Stevanin, Giovanni

Journal:

Year:

2015

Language:

english

File:

PDF, 173 KB

english, 2015

68

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

69

Antenatal diagnosis of infantile Refsum's disease

B. T. Poll-The, A. Poulos, P. Sharp, J. Boue, H. Ogier, M. Odièvre, J. M. Saudubray

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 198 KB

english, 1985

70

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

71

Antenatal manifestations of mitochondrial respiratory chain deficiency

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

Journal:

The Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 97 KB

english, 2003

72

Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts: Tissue specific isoforms of CPT1?

Ingrid Tein, France Demaugre, Jean-Paul Bonnefont, Jean-Marie Saudubray

Journal:

Journal of the Neurological Sciences

Year:

1989

Language:

english

File:

PDF, 1.19 MB

english, 1989

73

Therapy Insight: inborn errors of metabolism in adult neurology—a clinical approach focused on treatable diseases

Sedel, Frédéric, Lyon-Caen, Olivier, Saudubray, Jean-Marie

Journal:

Nature Clinical Practice Neurology

Year:

2007

Language:

english

File:

PDF, 288 KB

english, 2007

74

Inborn Metabolic Diseases ||

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

Year:

2006

Language:

english

File:

PDF, 10.09 MB

english, 2006

75

Neonatal cholestasis: an uncommon presentation of hyperargininemia

Gomes Martins, Esmeralda, Santos Silva, Ermelinda, Vilarinho, Silvia, Saudubray, Jean Marie, Vilarinho, Laura

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 123 KB

english, 2010

76

In Vivo Study of Phytanic Acid α-Oxidation in Classic Refsum's Disease and Chondrodysplasia Punctata

Ten Brink, Herman J, Schor, Danielle S M, Kok, Robert M, Stellaard, Frans, Kneer, Johannes, Poll-The, Bwee Tien, Saudubray, Jean-Marie, Jakobs, Cornelis

Journal:

Pediatric Research

Year:

1992

Language:

english

File:

PDF, 639 KB

english, 1992

77

The phenotype of adult versus pediatric patients with inborn errors of metabolism

Saudubray, Jean-Marie, Mochel, Fanny

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 365 KB

english, 2018

78

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

79

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome)

A. Rötig, V. Cormier, P. Chatelain, R. Francois, J. -M. Saudubray, P. Rustin, A. Munnich

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 203 KB

english, 1993

80

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

81

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

82

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

83

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

84

278 Massive subdural haematoma in Menkes disease

M.C. Nassogne, L. Hertz-Panier, F. Goutières, D. Armangaud, P. Delonlay, M. Zerah, F. Brunelle, J.M. Saudubray

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 116 KB

english, 1999

85

A defect in l-isoleucine metabolism associated with α-methyl-β-hydroxybutyric and α-methylacetoacetic aciduria: Quantitative in vivo and in vitro studies

D. Gompertz, J.M. Saudubray, C. Charpentier, K. Bartlett, P.A. Goodey, G.H. Draffan

Journal:

Clinica Chimica Acta

Year:

1974

Language:

english

File:

PDF, 1.01 MB

english, 1974

86

Serum citrulline as a marker of acute cellular rejection for intestinal transplantation

P.A. Pappas, J.-M. Saudubray, A.G. Tzakis, D. Rabier, M.R. Carreno, O. Gomez-Marin, F. Huijing, B. Gelman, D.M. Levi, J.R. Nery, T. Kato, N. Mittal, S. Nishida, J.F. Thompson, P. Ruiz

Journal:

Transplantation Proceedings

Year:

2002

Language:

english

File:

PDF, 67 KB

english, 2002

87

Manifestations hématologiques dans les erreurs innées du métabolisme

P de Lonlay, O Fenneteau, G Touati, C Mignot, T Billette de Villemeur, D Rabier, S Blanche, H Ogier de Baulny, J.M Saudubray

Journal:

Archives de Pédiatrie

Year:

2002

Language:

french

File:

PDF, 8.05 MB

french, 2002

88

Hypotrophie et manifestations digestives des désordres congénitaux de la glycosylation

M. Zentilin Boyer, P. de Lonlay, N. Seta, M. Besnard, C. Pélatan, H. Ogier, J.P. Hugot, C. Faure, J.M. Saudubray, J. Navarro, J.P. Cézard

Journal:

Archives de Pédiatrie

Year:

2003

Language:

french

File:

PDF, 81 KB

french, 2003

89

Partial elective pancreatectomy is curative in focal form of permanent hyperinsulinemic hypoglycaemia in infancy: A report of 45 cases from 1983 to 2000

C. Cr[eacute]tolle, C.Nihoul F[eacute]k[eacute]t[eacute], D. Jan, M.C. Nassogne, J.M. Saudubray, F. Brunelle, J. Rahier

Journal:

Journal of Pediatric Surgery

Year:

2002

Language:

english

File:

PDF, 36 KB

english, 2002

90

Comparative value of Doppler echocardiography and B-type natriuretic peptide assay in the etiologic diagnosis of acute dyspnea

Damien Logeart, Carole Saudubray, Pascale Beyne, Gabriel Thabut, Pierre-Vladimir Ennezat, Christophe Chavelas, Caroline Zanker, Erik Bouvier, Alain Cohen Solal

Journal:

Journal of the American College of Cardiology

Year:

2002

Language:

english

File:

PDF, 139 KB

english, 2002

91

Liver transplantation in maple syrup urine disease

U. Wendel, J. M. Saudubray, A. Bodner, P. Schadewaldt

Journal:

European Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 74 KB

english, 1999

92

ANTENATAL DIAGNOSIS OF GLUTARICACIDURIA TYPE II

Mitchell, G., Saudubray, J.M., Benoit, Y., Rocchiccioli, F., Charpentier, C., Ogier, H., Boue, J.

Journal:

Year:

1983

Language:

english

File:

PDF, 134 KB

english, 1983

93

X-LINKED TRANSMISSION OF STRUCTURAL GENE MUTATIONS RESPONSIBLE FOR ORNITHINE-TRANSCARBAMYLASE DEFICIENCIES

Cathelineau, Liliane, Navarro, Jean, Polonovski, Claude, Saudubray, Jean-Marie

Journal:

Year:

1973

Language:

english

File:

PDF, 295 KB

english, 1973

94

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

Mitchell, G. A., Labuda, D., Fontaine, G., Saudubray, J. M., Bonnefont, J. P., Lyonnet, S., Brody, L. C., Steel, G., Obie, C., Valle, D.

Journal:

Proceedings of the National Academy of Sciences

Year:

1991

Language:

english

File:

PDF, 995 KB

english, 1991

95

Inborn Metabolic Diseases ||

Saudubray, Jean-Marie, Baumgartner, Matthias R., Walter, John

Year:

2016

Language:

english

File:

PDF, 7.28 MB

english, 2016

96

Heterogenous Mutations of the Structural Gene of Human Ornithine Carbamyltransferase as Observed in Five Personal Cases

Cathelineau, Liliane, Saudubray, Jean-Marie, Polonovski, Claude

Journal:

Year:

1974

File:

PDF, 577 KB

1974

97

Peroxisomes in several congenital syndromes (infantile refsum's disease, adrenoleukodystrophy, menkes' disease, batten's ceroid lipofuscinosis, GM1 gangliosidosis, a.c.)

F. Roels, B.T. Poll-The, J. Scotto, J. Vamecq, A. Cornelis, H. Ogier, J.M. Saudubray, S. Goldfischer

Journal:

Ultramicroscopy

Year:

1986

Language:

english

File:

PDF, 96 KB

english, 1986

98

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

99

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

100

Deficiency of dihydroxyacetonephosphate acyltransferase and catalase-containing particles in patients with infantile refsum's disease

R. J. A. Wanders, R. B. H. Schutgens, G. Schrakamp, H. van den Bosch, J. M. Tager, B. T. Poll-Thé, J. M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

1986

Language:

english

File:

PDF, 290 KB

english, 1986

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски