Dorche C - Search Results

1

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

Divry P, Roulaud-Parrot F, Dorche C, Zabot MT, Contraire B, Hagenfeldt L, Larsson A. Divry P, et al. Among authors: dorche c. J Inherit Metab Dis. 1991;14(3):341-4. doi: 10.1007/BF01811698. J Inherit Metab Dis. 1991. PMID: 1770788 No abstract available.

2

A new case of isolated sulphite oxidase deficiency with rapid fatal outcome.

Vianey-Liaud C, Desjacques P, Gaulme J, Dorche C, Vanlieferinghen P, Dechelotte P, Divry P. Vianey-Liaud C, et al. Among authors: dorche c. J Inherit Metab Dis. 1988;11(4):425-6. doi: 10.1007/BF01800433. J Inherit Metab Dis. 1988. PMID: 3149702 No abstract available.

3

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

Guffon N, Souillet G, Maire I, Dorche C, Mathieu M, Guibaud P. Guffon N, et al. Among authors: dorche c. J Inherit Metab Dis. 1995;18(2):159-61. doi: 10.1007/BF00711755. J Inherit Metab Dis. 1995. PMID: 7564235 No abstract available.

4

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

Reiss J, Christensen E, Kurlemann G, Zabot MT, Dorche C. Reiss J, et al. Among authors: dorche c. Hum Genet. 1998 Dec;103(6):639-44. doi: 10.1007/s004390050884. Hum Genet. 1998. PMID: 9921896

5

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

Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT. Reiss J, et al. Among authors: dorche c. Am J Hum Genet. 1999 Mar;64(3):706-11. doi: 10.1086/302296. Am J Hum Genet. 1999. PMID: 10053004 Free PMC article.

6

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.

Reiss J, Cohen N, Dorche C, Mandel H, Mendel RR, Stallmeyer B, Zabot MT, Dierks T. Reiss J, et al. Among authors: dorche c. Nat Genet. 1998 Sep;20(1):51-3. doi: 10.1038/1706. Nat Genet. 1998. PMID: 9731530

7

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

Johnson JL, Coyne KE, Garrett RM, Zabot MT, Dorche C, Kisker C, Rajagopalan KV. Johnson JL, et al. Among authors: dorche c. Hum Mutat. 2002 Jul;20(1):74. doi: 10.1002/humu.9038. Hum Mutat. 2002. PMID: 12112661

8

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

Shalata A, Mandel H, Reiss J, Szargel R, Cohen-Akenine A, Dorche C, Zabot MT, Van Gennip A, Abeling N, Berant M, Cohen N. Shalata A, et al. Among authors: dorche c. Am J Hum Genet. 1998 Jul;63(1):148-54. doi: 10.1086/301916. Am J Hum Genet. 1998. PMID: 9634514 Free PMC article.

9

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?

Cheillan D, Vercherat M, Chevalier-Porst F, Charcosset M, Rolland MO, Dorche C. Cheillan D, et al. Among authors: dorche c. J Inherit Metab Dis. 2005;28(6):813-8. doi: 10.1007/s10545-005-0067-0. J Inherit Metab Dis. 2005. PMID: 16435172

10

CDG IIx with unusual phenotype.

Cheillan D, Cognat S, Dorche C, Jaeken J, Vianey-Saban C, Guffon N. Cheillan D, et al. Among authors: dorche c. J Inherit Metab Dis. 2004;27(1):103-4. doi: 10.1023/b:boli.0000016679.20481.4a. J Inherit Metab Dis. 2004. PMID: 15065572

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

57 results

Search Page

Filters