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C. Dorche · SciRah

Researcher profile · Semantic Scholar

C. Dorche

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C. Dorche — researcher profile on SciRah

h-index: 15
Works: 55
Citations: 1,432

Most-cited papers

Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
S. Pang, M. Wallace, L. Hofman, H. Thuline +6 more
1988Pediatrics448 citations
Semantic Scholar
Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
G. Souillet, N. Guffon, I. Maire, M. Pujol +14 more
2003Bone Marrow Transplantation218 citations Open access
Semantic Scholar
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
C. Minutti, J. Lacey, M. J. Magera, S. Hahn +9 more
2004Journal of Clinical Endocrinology and Metabolism157 citations
Semantic Scholar
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency
J. Reiss, N. Cohen, C. Dorche, H. Mandel +4 more
1998Nature Genetics106 citations
Semantic Scholar
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement
G. Touati, E. Rusthoven, Eliane Depondt, C. Dorche +5 more
2000Journal of Inherited Metabolic Disease74 citations
Semantic Scholar
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A
J. Reiss, E. Christensen, G. Kurlemann, M. Zabot +1 more
1998Human Genetics67 citations
Semantic Scholar
Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients
Jean L. Johnson, Katharine E. Coyne, Robert M. Garrett, M. Zabot +3 more
2002Human Mutation63 citations Open access
Semantic Scholar
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
S. Leimkühler, M. Charcosset, P. Latour, C. Dorche +6 more
2005Human Genetics30 citations
Semantic Scholar
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?
D. Cheillan, M. Vercherat, F. Chevalier‐Porst, M. Charcosset +2 more
2005Journal of Inherited Metabolic Disease26 citations
Semantic Scholar
Duchenne muscular dystrophy: neonatal screening and prenatal diagnosis.
H. Plauchu, C. Dorche, M. Cordier, P. Guibaud +1 more
1989The Lancet25 citations
Semantic Scholar
Infantile isolated sulphite oxidase deficiency: Report of a case with negative sulphite test and normal sulphate excretion
J. M. Van Der Klein-Van Moorsel, L. M. Smit, M. Brockstedt, C. Jakobs +2 more
2005European Journal of Pediatrics21 citations
Semantic Scholar
Molybdenum cofactor deficiency: first prenatal genetic analysis
J. Reiss, E. Christensen, C. Dorche
1999Prenatal Diagnosis21 citations
Semantic Scholar
Antenatal diagnosis of molybdenum cofactor deficiency.
R. Gray, A. Green, S. N. Basu, G. Constantine +4 more
1990American Journal of Obstetrics and Gynecology21 citations
Semantic Scholar
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.
A. Shalata, H. Mandel, J. Reiss, R. Szargel +7 more
1998American Journal of Human Genetics17 citations Open access
Semantic Scholar
Further Studies on the Nature of Phenylalanine Hydroxylation in Brain
J. Abita, C. Dorche, S. Kaufman
1974Pediatric Research16 citations
Semantic Scholar
Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation
N. Guffon, G. Souillet, I. Maire, C. Dorche +2 more
1995Journal of Inherited Metabolic Disease15 citations
Semantic Scholar
Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase defieiency
J. Dhondt, P. Guibaud, M. Rolland, C. Dorche +3 more
1988European Journal of Pediatrics13 citations
Semantic Scholar
Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers
A. Shalata, H. Mandel, C. Dorche, M. Zabot +7 more
2000Prenatal Diagnosis11 citations
Semantic Scholar
[Familial congenital muscular dystrophy caused by phosphofructokinase deficiency].
P. Guibaud, H. Carrier, M. Mathieu, C. Dorche +3 more
1978Archives francaises de pediatrie8 citations
Semantic Scholar
[2 infants born of a mother with phenylketonuria. Failure of a low phenylalanine diet during the 2d pregnancy].
M. Bovier-Lapierre, C. Saint-Dizier, F. Freycon, Michel David +2 more
1974Pediatrie8 citations
Semantic Scholar
["Enzymology" commission. Current enzymology in clinical chemistry and recommendations for the measurement of catalytic activities in the serum at 30 degrees C].
M. Mathieu, J. Bretaudiere, M. Galteau, J. Guidollet +6 more
1977Annales de Biologie Clinique7 citations
Semantic Scholar
Citrullinaemia and isolated sulphite oxidase deficiency in two siblings
Laura Vilarinho, J. Alves, C. Dorche, B. Chadefaux +1 more
1994Journal of Inherited Metabolic Disease6 citations
Semantic Scholar
CDG IIx with unusual phenotype
David Cheillan, S. Cognat, C. Dorche, J. Jaeken +2 more
2004Journal of Inherited Metabolic Disease5 citations
Semantic Scholar
False negative thiosulphate screening test in a case of molybdenum cofactor deficiency
F. Carragher, J. Kirk, C. Steer, J. C. Allen +1 more
1999Journal of Inherited Metabolic Disease5 citations
Semantic Scholar
[Sulfite oxidase deficiency presenting as Leigh syndrome].
J. Amiel, V. Gagey, D. Rabier, C. Dorche +5 more
1994Archives de pédiatrie5 citations
Semantic Scholar
5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome
P. Divry, F. Roulaud-Parrot, C. Dorche, M. T. Zabot +3 more
1991Journal of Inherited Metabolic Disease5 citations
Semantic Scholar
A new case of isolated sulphite oxidase deficiency with rapid fatal outcome
C. Vianey-Liaud, P. Desjacques, J. Gaulme, C. Dorche +3 more
1988Journal of Inherited Metabolic Disease5 citations
Semantic Scholar
Neonatal screening for congenital adrenal hyperplasia: a pilot study in France
J. Dhondt, C. Dorche, J. Farriaux, C. Courte
1986Journal of Inherited Metabolic Disease5 citations
Semantic Scholar
Galactose-1-phosphate-uridyl transferase activity in chorionic villi: A first trimester prenatal diagnosis of galactosaemia
M. Rolland, G. Mandon, J. Farriaux, C. Dorche
1986Journal of Inherited Metabolic Disease5 citations
Semantic Scholar
Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor
Eugenio Bonioli, A. Distefano, A. Palmieri, A. Bertola +5 more
1996Journal of Inherited Metabolic Disease4 citations
Semantic Scholar
[Application of tandem mass spectrometry to neonatal screening of inherited metabolic diseases: focus on present developments].
D. Cheillan, S. Cognat, C. Vianey-Saban, I. Maire +1 more
2004Annales de Biologie Clinique3 citations
Semantic Scholar
[Systematic neonatal detection of Duchenne's muscular dystrophy. Results after 10 years' of experience in Lyons (France)].
H. Plauchu, M. Cordier, H. Carrier, C. Dellamonica +5 more
1987Journal de genetique humaine3 citations
Semantic Scholar
[Immunochemical study of acid alpha-1,4-glucosidase in 7 patients with type II glycogenosis].
J. Bienvenu, Monique Mathieu, C. Collombel, P. Baltassat +3 more
1979Pediatrie3 citations
Semantic Scholar
Molybdenum cofactor deficiency in two siblings: Diagnostic difficulties
L. K. Hansen, K. Wulff, C. Dorche, Ernst Christensen
1993European Journal of Pediatrics2 citations
Semantic Scholar
[Cystic fibrosis: what is the incidence?].
J. Farriaux, C. Dorche, G. Travert
1993Archives francaises de pediatrie2 citations
Semantic Scholar
IMPAIRED BIOPTERIN SYNTHESIS IN A PATIENT WITH MILD HYPERPHENYLALANINEMIA. A NEW VARIANT
J. Dhondt, G. Forzy, Hayte Jm, P. Guibaud +3 more
19872 citations
Semantic Scholar
[Systematic screening for congenital hypothyroidism by determination of TSH in dried blood samples: results of experience during a 21-month period].
M. David, C. Dorche, M. Rolland, J. Feit +3 more
1978Pediatrie1 citations
Semantic Scholar
[Offspring of mothers with phenylketonuria. Apropos of a sibship].
A. M. Trouche, J. M. Gigonnet, C. Dorche, A. Nivelon-Chevallier +2 more
1974Pediatrie1 citations
Semantic Scholar
[Glucose-6-phosphate dehydrogenase Debrousse type: problem of enzymatic type specific to Algerians of the Arabic race].
C. Kissin, C. Dorche, J. Cotte
1970Bulletin de la Societe de chimie biologique1 citations
Semantic Scholar
Use of an automatic fluorescimetric method in the detection of phenylketonuria.
C. Collombel, C. Dorche, P. Baltassat, J. Cotte
19691 citations
Semantic Scholar
Antenatal and Neonatal Screening [Second Edition]
C. Dorche
2002Human Genetics0 citations
Semantic Scholar
Dpistage systmatique du syndrome de Turner
Mark R. David, C. Dorche, Y. Morel
19950 citations
Semantic Scholar
CASE REPORT Citrallinaemia and isolated sulphite oxidase deficiency in two siblings
L. Vilarinho, J. Alves, C. Dorche, B. Chadefaux +1 more
19940 citations
Semantic Scholar
[Neonatal screening of congenital hyperplasia of the adrenal glands caused by 21-hydroxylase deficiency. Realities and perspectives].
J. Farriaux, J. Dhondt, C. Dorche, M. David +1 more
1987Archives francaises de pediatrie0 citations
Semantic Scholar
[Neonatal screening of congenital hypothyroidism with TSH measurement in dried blood spots on filter paper. A two years experience (author's transl)].
M. David, C. Dorche, G. Teyssier, J. Cotte +1 more
1979Annales d'Endocrinologie0 citations
Semantic Scholar
[Neonatal detection of congenital hypothyroidism by TSH determination in dried blood stain. 2 years of experience].
M. David, C. Dorche, M. Rolland, J. Feit +4 more
1979La Nouvelle presse medicale0 citations
Semantic Scholar
[Neonatal screening for congenital hypothyroidism by measuring TSH in dried blood samples. Two years experience in the method (author's transl)].
M. David, C. Dorche, G. Teyssier, J. Cotte +1 more
1979Journal de gynecologie, obstetrique et biologie de la reproduction0 citations
Semantic Scholar
Systematic screening for congenital hypothyroidism using thyrotrophin (TSH)determination in dried blood samples on filter paper:report of an experience of nine months
M. David, C. Dorche, J. Cutte, F. Jeune
1978Pediatric Research0 citations
Semantic Scholar
Standardization of Enzyme Activities Determination in France
M. Mathieu, M. Bailly, J. Bretaudiere, C. Dorche +8 more
19780 citations
Semantic Scholar
[Systematic detection of phenylketonuria at birth in the Rhone-Alps region].
C. Dorche, M. Rolland, C. Collombel, J. Cotte +2 more
1974Pediatrie0 citations
Semantic Scholar

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