C. Charpentier

发表

Sudden infant death syndrome and inherited disorders of fatty acid β-oxidation.

Harpey Jp, C. Charpentier, M. Paturneau-Jouas, 1990 .

Medium chain acyl-CoA dehydrogenase deficiency.

C. Charpentier, E. Touma, 1992, Archives of disease in childhood.

Analysis of mixtures of small peptides.

R. Johnstone, A. Lemonnier, C. Charpentier, 1975, Biochemical and biophysical research communications.

Metabolic intermediates in lactic acidosis: compounds, samples and interpretation

A. Munnich, D. Rabier, P. Kamoun, 1996, Journal of Inherited Metabolic Disease.

A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency

P. Rustin, E. Boitier, G. Ponsot, 1998, Journal of the Neurological Sciences.

Decreased Plasma Ubiquinone-10 Concentration in Patients with Mevalonate Kinase Deficiency

H. Lehr, K. Gibson, G. Hoffmann, 1993, Pediatric Research.

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

D. Rabier, P. Parvy, P. Kamoun, 1996, European Journal of Pediatrics.

Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

K. Sartor, M. Leichsenring, H. Bremer, 1993, Pediatrics.

An extracorporeal hollow-fiber reactor for phenylketonuria using immobilized phenylalanine ammonia lyase.

A. Munnich, J. Frézal, J. Saudubray, 1986, Developmental pharmacology and therapeutics.

MEVALONIC ACIDURIA: IMPAIRED UBIQUINON BIOSYNTHESIS AND MODEL FOR SIDE EFFECTS OF HMG-COA REDUCTASE INHIBITORS

K. Gibson, G. Hoffmann, C. Hübner, 1992, Pediatric Research.

Clinical aspects of mitochondrial disorders

A. Munnich, P. Rustin, A. Rötig, 1992, Journal of Inherited Metabolic Disease.

Variation in plasma ketone bodies during a 24-hour fast in normal and in hypoglycemic children: relationship to age.

J. Saudubray, J. Limal, F. Coudé, 1981, The Journal of pediatrics.

Optimal conditions for prolidase assay by proline colorimetric determination: application to iminodipeptiduria.

I. Myara, A. Lemonnier, C. Charpentier, 1982, Clinica chimica acta; international journal of clinical chemistry.

Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency

A. Munnich, C. Griscelli, J. Frézal, 1981, Journal of Inherited Metabolic Disease.

Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis

A. Munnich, J. Frézal, J. Saudubray, 1981, European Journal of Pediatrics.

Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency

A. Munnich, C. Griscelli, J. Frézal, 2004, Journal of Clinical Immunology.

Hyperammonemia secondary to hereditary organic acidurias: a study of 29 cases.

P. Briand, J. Saudubray, F. Coudé, 1982, Advances in experimental medicine and biology.

FATTY-ACID-RESPONSIVE ALOPECIA IN MULTIPLE CARBOXYLASE DEFICIENCY

A. Munnich, J. Saurat, J. Frézal, 1980, The Lancet.

Short Communication: Defective Insulin Response to Intravenous Glucose in Congenital Lactic Acidosis

A. Munnich, J. Saudubray, F. Coudé, 1982, Pediatric Research.

Dichloroacetate as treatment for congenital lactic acidosis.

J. Saudubray, F. Coudé, C. Marsac, 1978, The New England journal of medicine.

Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency

P. Rustin, J. Harpey, G. Ponsot, 1998, Journal of Inherited Metabolic Disease.

In-vitro responses to ascorbate and manganese in fibroblasts from a patient with prolidase deficiency and iminodipeptiduria: Cell growth, prolidase activity and collagen metabolism

I. Myara, A. Lemonnier, A. Chamson, 1983, Journal of Inherited Metabolic Disease.

Glycine transport by cultured skin fibroblasts from a patient with isolated hyperglycinuria

N. Moatti, J. Maccario, A. Lemonnier, 1980, Journal of Inherited Metabolic Disease.

CONGENITAL LACTIC ACIDOSIS, α‐KETOGLUTARIC ACIDURIA AND VARIANT FORM OF MAPLE SYRUP URINE DISEASE DUE TO A SINGLE ENZYME DEFECT: DIHYDROLIPOYL DEHYDROGENASE DEFICIENCY

A. Munnich, J. Frézal, F. Rocchiccioli, 1982, Acta paediatrica Scandinavica.

[Protocol of metabolic investigations in hereditary metabolic diseases].

D. Rabier, P. Kamoun, J. Saudubray, 1994, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Prolidase and prolidase deficiency.

I. Myara, A. Lemonnier, C. Charpentier, 1984, Life sciences.

Plasma prolidase activity: a possible index of collagen catabolism in chronic liver disease.

I. Myara, M. Fabre, A. Lemonnier, 1984, Clinical chemistry.

Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update.

A. Munnich, J. Frézal, J. Saudubray, 1984, Journal of inherited metabolic disease.

Anticystinuric Drugs Activity — Experimental Study on the Rat

A. Lemonnier, C. Charpentier, J. Thomas, 1976 .

DEFECTIVE BIOTIN ABSORPTION IN MULTIPLE CARBOXYLASE DEFICIENCY

A. Munnich, J. Frézal, J. Saudubray, 1981, The Lancet.

Neonatal management of organic acidurias: clinical update

A. Munnich, J. Frézal, F. Coudé, 1984 .

Hudson memorial lecture

J. Frézal, J. Saudubray, F. Coudé, 1984, Journal of Inherited Metabolic Disease.

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

J. Saudubray, G. Draffan, D. Gompertz, 1974 .

Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency.

J. Harpey, P. Divry, M. Coudé, 1987, The Journal of pediatrics.

Investigations on an animal model for a tentative explanation of increased urinary ethylmalonic acid in patients with glutaric aciduria type II treated with riboflavin

J. Harpey, J. Saudubray, M. Coudé, 1988 .

[Multiple biotin-dependent carboxylase deficiencies (author's transl)].

A. Munnich, J. Frézal, J. Saudubray, 1981, Archives francaises de pediatrie.

Neonatal glutaric aciduria type II: An X-linked recessive inherited disorder

J. Frézal, J. Saudubray, F. Coudé, 2004, Human Genetics.

Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother. Study of a kindred with seven deaths in infancy: Value of riboflavin therapy in preventing this syndrome.

J. Harpey, S. Goodman, G. Lefèbvre, 1983, The Journal of pediatrics.

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

P. Divry, J. Saudubray, A. Lombès, 1986, Journal of Inherited Metabolic Disease.

NEONATAL CONGENITAL LACTIC ACIDOSIS WITH PYRUVATE CARBOXYLASE DEFICIENCY IN TWO SIBLINGS

J. Saudubray, C. Marsac, C. Charpentier, 1976, Acta paediatrica Scandinavica.

HEREDITARY ORNITHINE TRANSCARBAMYLASE DEFICIENCY

J. Lejeune, J. Saudubray, J. Laugier, 1975, Acta paediatrica Scandinavica.

Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.

A. Munnich, F. Rocchiccioli, J. Saudubray, 1986, Neuropediatrics.

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

A. Munnich, J. Frézal, D. Rabier, 1989, Journal of Inherited Metabolic Disease.

Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency.

A. Munnich, J. Saudubray, F. Coudé, 1981, Pediatrics.

Cell density affects prolidase and prolinase activity and intracellular amino acid levels in cultured human cells.

M. Gautier, I. Myara, A. Lemonnier, 1985, Clinica chimica acta; international journal of clinical chemistry.

Brain uptake of 11C-methionine in phenylketonuria

A. Todd-Pokropek, J. Delforge, D. Comar, 1981, European Journal of Pediatrics.

L-carnitine: a way to decrease cellular toxicity of ifosfamide?

J. Harpey, A. Sewell, D. Rabier, 1995, European Journal of Pediatrics.

Correlation between blood ammonia concentration and organic acid accumulation in isovaleric and propionic acidemia.

G. Grimber, P. Parvy, J. Saudubray, 1982, Pediatrics.

[Prolidase and manganese deficiency. Apropos of a case: diagnosis and treatment].

J. Bressieux, C. Charpentier, J. Tanzer, 1982, Annales de dermatologie et de venereologie.

Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia.

D. Rabier, P. Parvy, P. Kamoun, 1994, The Journal of pediatrics.

Relationship between cell density and prolidase activity in human skin fibroblasts: effects of ascorbate and fructose.

M. Gautier, I. Myara, A. Lemonnier, 1984, Biochimie.

[Changes of plasma amino acids in cirrhotics treated with ornithine salts].

C. Charpentier, R. Molimard, F. Lemonnier, 1982, Annals of nutrition & metabolism.

Clinical Approach to Inherited Metabolic Diseases

J. Saudubray, C. Charpentier, J. M. Saudubray, 2000 .

Tyrosine aminotransferase isoenzyme deficiency.

M. Odiévre, A. Lemonnier, C. Charpentier, 1979, The Journal of pediatrics.

Hyperketotic states due to inherited defects of ketolysis.

J. Saudubray, A. Lombès, C. Jakobs, 1987, Enzyme.

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

M. Durán, K. Rajagopalan, J. Johnson, 1983, Journal of Inherited Metabolic Disease.

ANTENATAL DIAGNOSIS OF COMBINED XANTHINE AND SULPHITE OXIDASE DEFICIENCIES

S. K. Wadman, J. Johnson, J. Saudubray, 1983, The Lancet.

Familial hypermethioninemia partially responsive to dietary restriction.

J. Saudubray, C. Brunet, J. Pérignon, 1990, The Journal of pediatrics.

Metabolic abnormalities observed in the rat after administration of sodium dipropylacetate.

A. Lemonnier, B. Cherruau, C. Charpentier, 1981, Toxicology letters.

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

J. Saudubray, F. Coudé, C. Charpentier, 1982, Journal of Inherited Metabolic Disease.

Organic acids in aqueous humour and plasma: Post mortem study in infants and diagnosis of enzymopathies

P. Kamoun, G. Chéron, J. Bonnefont, 1991, Journal of Inherited Metabolic Disease.

Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis

P. Kamoun, J. Saudubray, J. Bonnefont, 1989, Journal of Inherited Metabolic Disease.

[Effects of propionic acid metabolic precursors in biotin-deprived rats].

A. Lemonnier, B. Cherruau, C. Charpentier, 1980, Nutrition and metabolism.

[The traps of Guthrie's test].

J. Saudubray, C. Charpentier, 1976, Archives francaises de pediatrie.

L-carnitine: a way to decrease cellular toxicity of ifosfamide?

J. Harpey, A. Sewell, D. Rabier, 2005, European Journal of Pediatrics.

Modifications de ľamino-acidémie des cirrhotiques sous ľinfluence de sels d’ornithine

C. Charpentier, R. Molimard, F. Lemonnier, 1982 .

Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

M. Durán, P. Divry, J. Saudubray, 1988, Journal of Inherited Metabolic Disease.

Secondary metabolic defects in spinal muscular atrophy type II

N. Romero, J. Harpey, F. Renault, 1990, The Lancet.

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

A Vassault, A. Munnich, P. Rustin, 1992, The Journal of pediatrics.

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

A. Munnich, J. Frézal, C. Charpentier, 1983, Journal of Inherited Metabolic Disease.

Letter: The presence of the homoanalogues of substrates of the urea cycle in the presence of argininosuccinate synthetase deficiency.

J. Saudubray, C. Charpentier, C. Polonovski, 1974, Pediatric research.

[Prognosis of congenital methylmalonic aciduria. Correlations between tolerance to proteins, response to vitamin B12 and enzymatic defect (author's transl)].

J. Saudubray, F. Coudé, D. Gompertz, 1980, Archives francaises de pediatrie.

[Isovaleric acidemia. Study and treatment in 3 brothers].

J. Saudubray, C. Charpentier, J. Pousset, 1976, Archives francaises de pediatrie.

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

J. Saudubray, F. Coudé, A. Lemonnier, 1982, Journal of Inherited Metabolic Disease.

Potentiation by piridoxilate of the synthesis of hippurate from benzoate in isolated rat hepatocytes. An approach to the determination of new pathways of nitrogen excretion in inborn errors of urea synthesis.

G. Grimber, F. Coudé, M. Coudé, 1984, Clinica chimica acta; international journal of clinical chemistry.

Determination of dipeptides in urine.

R. Johnstone, A. Lemonnier, C. Charpentier, 1974, Clinica chimica acta; international journal of clinical chemistry.

Analysis of dipeptides in urine by gas chromatography/mass spectrometry: implications for collagen breakdown in iminodipeptiduria following a study of the dipeptides by electron impact and chemical ionization.

R. Johnstone, I. Myara, A. Lemonnier, 1984, Clinica chimica acta; international journal of clinical chemistry.

Cardiology Myocardial infarction Cardiac liver Other diseases Surgery Rheumatology Cancer Without metastasis Liver metastasis Other metastasis Dermatology ( leg ulcers ) Gastroenterology Cirrhosis Acute hepatitis Lithiasis Chronic pancreatitis Other diseases Other diseases

I. Myara, M. Fabre, A. Lemonnier, 2004 .

Prolidase deficiency with iminodipeptiduria: Biochemical investigations and first results of attempted therapy

R. Johnstone, A. Lemonnier, C. Charpentier, 1981, Journal of Inherited Metabolic Disease.

ACUTE FATTY LIVER OF PREGNANCY

J. Harpey, C. Charpentier, 1983, The Lancet.

Simvastatin-induced rhabdomyolysis followed by a MELAS syndrome.

R. Gherardi, P. Chariot, C. Charpentier, 1993, The American journal of medicine.

Letters to the Editor

J. Saudubray, C. Charpentier, C. Polonovski, 1974, Pediatric Research.