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51

Infantile Refsum disease: an inherited peroxisomal disorder

B. T. Poll-The, J. M. Saudubray, H. A. M. Ogier, M. Odièvre, J. M. Scotto, L. Monnens, L. C. P. Govaerts, F. Roels, A. Cornelis, R. B. H. Schutgens, R. J. A. Wanders, A. W. Schram, J. M. Tager

Journal:

European Journal of Pediatrics

Year:

1987

Language:

english

File:

PDF, 943 KB

english, 1987

52

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

53

Impaired plasmalogen metabolism in infantile Refsum's disease

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

Journal:

European Journal of Pediatrics

Year:

1986

Language:

english

File:

PDF, 211 KB

english, 1986

54

Intellectual and school performances in early-treated classical PKU patients

J. M. Saudubray, F. Rey, H. Ogier, V. Abadie, J. P. Farriaux, J. Ghisolfi, P. Guibaud, J. Rey, M. Vidailhet

Journal:

European Journal of Pediatrics

Year:

1987

Language:

english

File:

PDF, 251 KB

english, 1987

55

Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid

C. Jakobs, L. Sweetman, S. K. Wadman, M. Duran, J.-M. Saudubray, W. L. Nyhan

Journal:

European Journal of Pediatrics

Year:

1984

Language:

english

File:

PDF, 519 KB

english, 1984

56

Anatomo-pathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor

A. Roth, C. Nogues, J. P. Monnet, H. Ogier, J. M. Saudubray

Journal:

Virchows Archiv

Year:

1985

Language:

english

File:

PDF, 595 KB

english, 1985

57

Liver transplantation in two cases of propionic acidaemia

J. S. Schlenzig, F. Poggi-Travert, J. Laurent, D. Rabier, D. Jan, U. Wendel, A. C. Sewell, Y. Revillon, P. Kamoun, J. M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 893 KB

english, 1995

58

Peroxisomal disorders: A review

B. Fournier, J. A. M. Smeitink, L. Dorland, R. Berger, J. M. Saudubray, B. T. Poll-The

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 1.14 MB

english, 1994

59

Clinical approach to inherited peroxisomal disorders

F. Poggi-Travert, B. Fournier, B. T. Poll-The, J. -M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 2.86 MB

english, 1995

60

Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele

N. Gregersen, V. Winter, S. Lyonnet, J. M. Saudubray, U. Wendel, T. G. Jensen, B. S. Andresen, S. Kølvraa, W. Lehnert, L. Bolund, E. Christensen, P. Bross

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 1.92 MB

english, 1994

61

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

62

Do criteria exist from urinary organic acids to distinguish β-oxidation defects?

D. Rabier, J. Bardet, Ph. Parvy, F. Poggi, M. Brivet, J. M. Saudubray, P. Kamoun

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 226 KB

english, 1995

63

Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis

M. Brivet, A. Slama, H. Ogier, A. Boutron, F. Demaugre, J. M. Saudubray, A. Lemonnier

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 233 KB

english, 1994

64

Dicarboxylic aminoaciduria

P. Kamoun, Ph. Parvy, D. Rabier, J. Bardet, T. Billette de Villemeur, J. -M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 70 KB

english, 1994

65

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

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

Journal:

Virchows Archiv

Year:

1988

Language:

english

File:

PDF, 1.18 MB

english, 1988

66

Continuous venovenous haemofiltration in the acute treatment of inborn errors of metabolism

P. Jouvet, F. Poggi, J. M. Saudubray

Journal:

Pediatric Nephrology

Year:

1995

Language:

english

File:

PDF, 61 KB

english, 1995

67

Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency

A. Fischer, A. Munnich, J. M. Saudubray, S. Mamas, F-X Coudé, C. Charpentier, F. Dray, J. Frézal, C. Griscelli

Journal:

Journal of Clinical Immunology

Year:

1982

Language:

english

File:

PDF, 482 KB

english, 1982

68

Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data

D. De Craemer, M. J. Zweens, S. Lyonnet, R. J. A. Wanders, B. T. Poll-The, R. B. H. Schutgens, J. J. J. Waelkens, J. M. Saudubray, F. Roels

Journal:

Virchows Archiv

Year:

1991

Language:

english

File:

PDF, 551 KB

english, 1991

69

Metabolic intermediates in lactic acidosis: compounds, samples and interpretation

F. Poggi-Travert, D. Martin, T. Billette de Villemeur, J. P. Bonnefont, A. Vassault, D. Rabier, C. Charpentier, P. Kamoun, A. Munnich, J. M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 803 KB

english, 1996

70

Clinical presentation of mitochondrial disorders in childhood

A. Munnich, A. Rötig, D. Chretien, V. Cormier, T. Bourgeron, J. -P. Bonnefont, J. -M. Saudubray, P. Rustin

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 596 KB

english, 1996

71

Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey

J. M. Saudubray, H. Ogier, J. P. Bonnefont, A. Munnich, A. Lombes, F. Hervé, G. Mitchel, B. Poll Thé, N. Specola, P. Parvy, J. Bardet, D. Rabier, M. Coudé, C. Charpentier, J. Frézal

Journal:

Journal of Inherited Metabolic Disease

Year:

1989

Language:

english

File:

PDF, 1.31 MB

english, 1989

72

A simple isotopic technique for assessing vitamin responsivenessin vivoin propionic acidaemia

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

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 243 KB

english, 1990

73

Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents

M. Brivet, A. Slama, D. S. Millington, C. R. Roe, F. Demaugre, A. Legrand, A. Boutron, F. Poggi, J. M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 279 KB

english, 1996

74

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

75

Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthetase deficiency

G. Kuchler, D. Rabier, F. Poggi-Travert, D. Meyer-Gast, J. Bardet, V. Drouin, M. Cadoudal, J. -M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 207 KB

english, 1996

76

Clinical aspects of mitochondrial disorders

A. Munnich, P. Rustin, A. Rötig, D. Chretien, J.-P. Bonnefont, C. Nuttin, V. Cormier, A. Vassault, P. Parvy, J. Bardet, C. Charpentier, D. Rabier, J.-M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 600 KB

english, 1992

77

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

78

Amino acid profile in pyruvate carboxylase deficiency: Comparison with some other metabolic disorders

C. Charpentier, J. M. Tetau, H. Ogier, J. M. Saudubray, F. X. Coude, A. Lemonnier

Journal:

Journal of Inherited Metabolic Disease

Year:

1982

Language:

english

File:

PDF, 196 KB

english, 1982

79

Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases, including ultrastructural studies of the liver

J. M. Scotto, M. Hadchouel, M. Odievre, M. -H. Laudat, J. -M. Saudubray, O. Dulac, I. Beucler, P. Beaune

Journal:

Journal of Inherited Metabolic Disease

Year:

1982

Language:

english

File:

PDF, 945 KB

english, 1982

80

Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency

C. A. Stanley, F. Sunaryo, D. E. Hale, J. -P. Bonnefont, F. Demaugre, J. -M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 396 KB

english, 1992

81

Alloisoleucine in isovaleric acidaemia

D. Rabier, P. Parvy, J. Bardet, J. M. Saudubray, P. Kamoun

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 176 KB

english, 1992

82

A new case of methylmalonic aciduria with unexplained negative urinary methylmalonic colorimetric test

C. Charpentier, M. Coude, J-L. Perignon, A. Lombes, J-M. Saudubray, P. Divry

Journal:

Journal of Inherited Metabolic Disease

Year:

1986

Language:

english

File:

PDF, 123 KB

english, 1986

83

Pyruvate carboxylase deficiencies: Complementation studies between “French” and “American” phenotypes in cultured fibroblasts

C. Augereau, D. Pham Dinh, A. Moncion, C. Marsac, J. M. Saudubray, B. H. Robinson

Journal:

Journal of Inherited Metabolic Disease

Year:

1985

Language:

english

File:

PDF, 498 KB

english, 1985

84

Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

B. T. Poll-The, J. P. Bonnefont, H. Ogier, C. Charpentier, A. Pelet, J. M. Le Fur, C. Jakobs, R. M. Kok, M. Duran, P. Divry, J. Scotto, J. M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

1988

Language:

english

File:

PDF, 210 KB

english, 1988

85

Attempt at therapy in sulphite oxidase deficiency

Ph. Tardy, Ph. Parvy, C. Charpentier, J. -P. Bonnefont, J. -M. Saudubray, P. Kamoun

Journal:

Journal of Inherited Metabolic Disease

Year:

1989

Language:

english

File:

PDF, 186 KB

english, 1989

86

Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis

M. Coude, J. P. Bonnefont, C. Charpentier, B. Chadefaux, J. M. Saudubray, P. Kamoun

Journal:

Journal of Inherited Metabolic Disease

Year:

1989

Language:

english

File:

PDF, 146 KB

english, 1989

87

EEG findings as an aid to the diagnosis of neonatal non-ketotic hyperglycinaemia

J. Mises, F. Moussali-Salefranques, M. L. Laroque, H. Ogier, F. X. Coude, C. Charpentier, J. M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

1982

Language:

english

File:

PDF, 1.65 MB

english, 1982

88

Multiple molybdoenzyme deficiencies due to an inborn error of molybdenum cofactor metabolism: Two additional cases in a new family

A. Munnich, J. M. Saudubray, C. Charpentier, H. Ogier, F. X. Coudé, J. Frézal, L. Yacoub, A. Harbi, S. Snoussi

Journal:

Journal of Inherited Metabolic Disease

Year:

1983

Language:

english

File:

PDF, 278 KB

english, 1983

89

Absence of hepatic molybdenum cofactor: An inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase

S. K. Wadman, M. Duran, F. A. Beemer, B. P. Cats, J. L. Johnson, K. V. Rajagopalan, J. M. Saudubray, H. Ogier, C. Charpentier, R. Berger, G. P. A. Smit, J. Wilson, S. Krywawych

Journal:

Journal of Inherited Metabolic Disease

Year:

1983

Language:

english

File:

PDF, 856 KB

english, 1983

90

Prenatal diagnosis and confirmation of Infantile Refsum's disease

B. T. Poll-The, J. M. Saudubray, F. Rocchiccioli, J. Scotto, F. Roels, J. Boue, H. Ogier, Y. Dumez, R. J. A. Wanders, R. B. H. Schutgens, A. W. Schram, J. M. Tager

Journal:

Journal of Inherited Metabolic Disease

Year:

1987

Language:

english

File:

PDF, 277 KB

english, 1987

91

Infantile ketoacidosis associated with decreased activity of succinyl-CoA: 3-ketoacid CoA-transferase

B. Middleton, R. Day, A. Lombes, J. M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

1987

Language:

english

File:

PDF, 236 KB

english, 1987

92

The prenatal diagnosis of glutaric aciduria type II, using quantitative GC-MS

R. A. Chalmers, B. M. Tracey, G. S. King, B. Pettit, F. Rocchiccioli, J. -M. Saudubray, R. G. F. Gray, J. Boué, J. W. Keeling, R. H. Lindenbaum

Journal:

Journal of Inherited Metabolic Disease

Year:

1985

Language:

english

File:

PDF, 271 KB

english, 1985

93

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

B. T. Poll-The, P. Maroteaux, C. Narcy, P. Quetin, M. Guesnu, R. J. A. Wanders, R. B. H. Schutgens, J. M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

1991

Language:

english

File:

PDF, 227 KB

english, 1991

94

Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficiencies

D. Rabier, C. Narcy, J. Bardet, P. Parvy, J. M. Saudubray, P. Kamoun

Journal:

Journal of Inherited Metabolic Disease

Year:

1991

Language:

english

File:

PDF, 305 KB

english, 1991

95

An evaluation of protein requirements in methylmalonic acidaemia

D. Ney, C. Bay, J. M. Saudubray, D. G. Kelts, S. Kulovich, L. Sweetman, W. L. Nyhan

Journal:

Journal of Inherited Metabolic Disease

Year:

1985

Language:

english

File:

PDF, 1.49 MB

english, 1985

96

Clinical outcome and long-term management of 17 patients with propionic acidaemia

S. B. van der Meer, F. Poggi, M. Spada, J. P. Bonnefont, H. Ogier, P. Hubert, E. Depondt, D. Rapoport, J. M. Saudubray, D. Rabier, C. Charpentier, P. Parvy, J. Bardet, P. Kamoun

Journal:

European Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 616 KB

english, 1996

97

The use of metronidazole in management of methylmalonic and propionic acidaemias

G. N. Thompson, R. A. Chalmers, J. H. Walter, J. L. Bresson, S. L. Lyonnet, P. J. Reed, J. M. Saudubray, J. V. Leonard, D. Halliday

Journal:

European Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 499 KB

english, 1990

98

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

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

Journal:

European Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 796 KB

english, 1994

99

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

100

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