Concepedia

Author

J. M. Saudubray

Hôpital Necker-Enfants Malades

Also Known As

J M Saudubray, J-M Saudubray, J. -M. Saudubray, J. M. SAUDUBRAY, J. M. Saudubray, J.-M Saudubray, J.-M. Saudubray, J.M. SAUDUBRAY, J.M. Saudubray

37

Publications

981

Citations

15

H-Index

41

Concepts

All Affiliations

Hôpital Necker-Enfants MaladesInsermHôpital des EnfantsWilhelmina Children's HospitalHôpital Robert-Debré
JM

About

J. M. Saudubray is an author at Hôpital Necker-Enfants Malades specializing in medicine, inherited metabolic disease, and metabolism.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

6

6

278

2

Biochemistry

3

3

225

3

Health Sciences

1

1

200

4

Natural Sciences

1

1

15

5

Social Sciences

1

1

18

J. M. Saudubray

×

16

Publications

716

Citations

13

H-Index

YearCitations

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

France Demaugre, Jean‐Paul Bonnefont, Marco Colonna,

Journal of Clinical Investigation

1991

200

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

Jean‐Paul Bonnefont, Franco Taroni, Patrizia Cavadini,

PubMed

1996

86

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. Durán, F. A. Beemer,

Journal of Inherited Metabolic Disease

1983

76

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

Guy Touati, Esther Rusthoven, Eliane Depondt,

Journal of Inherited Metabolic Disease

2000

72

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

Christine Bodemer, Y. De Prost, Bertrand Bachollet,

British Journal of Dermatology

1994

56

Tyrosine hydroxylase deficiency unresponsive to L‐dopa treatment with unusual clinical and biochemical presentation

Pascale de Lonlay, Marie‐Cécile Nassogne, A. H. van Gennip,

Journal of Inherited Metabolic Disease

2000

47

Intellectual and school performances in early-treated classical PKU patients

J. M. Saudubray, F.A. Rey, H. Ogier,

European Journal of Pediatrics

1987

37

Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis

M. Brivet, Abdelhamid Slama, H. Ogier,

Journal of Inherited Metabolic Disease

1994

24

Prenatal Diagnosis of Methylmalonic Aciduria

D. Gompertz, Patricia A. Goodey, J. M. Saudubray,

PEDIATRICS

1974

19

Dihydropteridine reductase deficiency: Levodopa’s long-term effectiveness without dyskinesia

F. Sedel, M.J. Santiago Ribeiro, Philippe Rémy,

Neurology

2006

18

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