C. Dorche

发表

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase

F. Scaglia, J. Reiss, P. Latour, 2005, Human Genetics.

Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase defieiency

M. Rolland, G. Forzy, C. Dorche, 1988, European Journal of Pediatrics.

CDG IIx with unusual phenotype

J. Jaeken, D. Cheillan, C. Vianey‐Saban, 2004, Journal of Inherited Metabolic Disease.

Neonatal screening for congenital adrenal hyperplasia: a pilot study in France

C. Dorche, J. Farriaux, J. Dhondt, 1986, Journal of Inherited Metabolic Disease.

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

M. Durán, D. Rabier, J. Saudubray, 2000, Journal of Inherited Metabolic Disease.

Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources

Y. Bertrand, Y. Bertrand, J. Bérard, 2003, Bone Marrow Transplantation.

Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

K. Fujieda, S. Pang, L. Hofman, 1988, Pediatrics.

Studies on the interaction of a thiol-dependent hydrogen peroxide scavenging enzyme and phenylalanine hydroxylase.

S. Milstien, S. Kaufman, C. Dorche, 1990, Archives of biochemistry and biophysics.

False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT): Should we adjust IRT cut-off to ethnic origin?

M. Rolland, D. Cheillan, M. Vercherat, 2005, Journal of Inherited Metabolic Disease.

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

J. Reiss, E. Christensen, G. Kurlemann, 1998, Human Genetics.

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

T. Dierks, H. Mandel, J. Reiss, 1998, Nature Genetics.

Molybdenum cofactor deficiency in two siblings: Diagnostic difficulties

E. Christensen, K. Wulff, C. Dorche, 1993, European Journal of Pediatrics.

Infantile isolated sulphite oxidase deficiency: Report of a case with negative sulphite test and normal sulphate excretion

M. Durán, C. Jakobs, L. Smit, 2005, European Journal of Pediatrics.

CASE REPORT Citrallinaemia and isolated sulphite oxidase deficiency in two siblings

L. Vilarinho, C. Dorche, P. Parry, 1994 .

Antenatal diagnosis of molybdenum cofactor deficiency.

C. Dorche, C. Vianey-Liaud, G. Constantine, 1990, American journal of obstetrics and gynecology.

Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients

C. Kisker, K. Rajagopalan, R. Garrett, 2002, Human mutation.

Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor

G. Minniti, A. Bertola, C. Bellini, 1996, Journal of Inherited Metabolic Disease.

Galactose-1-phosphate-uridyl transferase activity in chorionic villi: A first trimester prenatal diagnosis of galactosaemia

M. Rolland, C. Dorche, J. Farriaux, 1986, Journal of Inherited Metabolic Disease.

Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.

D. Chace, P. Rinaldo, D. Matern, 2004, The Journal of clinical endocrinology and metabolism.

Further Studies on the Nature of Phenylalanine Hydroxylation in Brain

J. Abita, S. Kaufman, C. Dorche, 1974, Pediatric Research.

Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation

N. Guffon, I. Maire, C. Dorche, 1995, Journal of Inherited Metabolic Disease.

[Offspring of mothers with phenylketonuria. Apropos of a sibship].

C. Dorche, J. Nivelon, M. Alison, 1974, Pediatrie.

[2 infants born of a mother with phenylketonuria. Failure of a low phenylalanine diet during the 2d pregnancy].

F. Freycon, C. Dorche, M. David, 1974, Pediatrie.

5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome

P. Divry, L. Hagenfeldt, A. Larsson, 1991, Journal of Inherited Metabolic Disease.

Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.

H. Mandel, M. Berant, J. Reiss, 1998, American journal of human genetics.

Spherophakia associated with molybdenum cofactor deficiency.

A. Selicorni, G. Minniti, V. Briscioli, 1997, American journal of medical genetics.

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.

J. Reiss, R. Mendel, N. Cohen, 1999, American journal of human genetics.

Molybdenum cofactor deficiency: first prenatal genetic analysis

J. Reiss, E. Christensen, C. Dorche, 1999, Prenatal diagnosis.

Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers

H. Mandel, J. Reiss, N. Cohen, 2000, Prenatal diagnosis.

[Sulfite oxidase deficiency presenting as Leigh syndrome].

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

Citrullinaemia and isolated sulphite oxidase deficiency in two siblings

L. Vilarinho, P. Parvy, C. Dorche, 1994, Journal of Inherited Metabolic Disease.

SYSTEMATIC NEONATAL SCREENING FOR DUCHENNE MUSCULAR DYSTROPHY

C. Dorche, C. Collombel, J. Cotte, 1978, The Lancet.

DUCHENNE MUSCULAR DYSTROPHY: NEONATAL SCREENING AND PRENATAL DIAGNOSIS

H. Plauchu, M. Cordier, C. Dorche, 1989, The Lancet.

[Immunochemical study of acid alpha-1,4-glucosidase in 7 patients with type II glycogenosis].

P. Divry, J. Bienvenu, P. Baltassat, 1979, Pediatrie.