Colombo JP - Search Results

1

A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate.

Guffon N, Vianey-Saban C, Bourgeois J, Rabier D, Colombo JP, Guibaud P. Guffon N, et al. Among authors: colombo jp. J Inherit Metab Dis. 1995;18(1):61-5. doi: 10.1007/BF00711374. J Inherit Metab Dis. 1995. PMID: 7623444

2

N-acetylglutamate synthetase deficiency, a second patient.

Bachmann C, Brandis M, Weissenbarth-Riedel E, Burghard R, Colombo JP. Bachmann C, et al. Among authors: colombo jp. J Inherit Metab Dis. 1988;11(2):191-3. doi: 10.1007/BF01799871. J Inherit Metab Dis. 1988. PMID: 3139931

3

N-Acetylglutamate synthetase deficiency responding to carbamylglutamate.

Hinnie J, Colombo JP, Wermuth B, Dryburgh FJ. Hinnie J, et al. Among authors: colombo jp. J Inherit Metab Dis. 1997 Nov;20(6):839-40. doi: 10.1023/a:1005344507536. J Inherit Metab Dis. 1997. PMID: 9427158 No abstract available.

4

Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders.

Burlina AB, Bachmann C, Wermuth B, Bordugo A, Ferrari V, Colombo JP, Zacchello F. Burlina AB, et al. Among authors: colombo jp. J Inherit Metab Dis. 1992;15(3):395-8. doi: 10.1007/BF02435986. J Inherit Metab Dis. 1992. PMID: 1405478 No abstract available.

5

A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency.

Zimmer KP, Matsuura T, Colombo JP, Koch HG, Ullrich K, Deufel T, Harms E, Matsuda I. Zimmer KP, et al. Among authors: colombo jp. J Inherit Metab Dis. 1995;18(3):356-7. doi: 10.1007/BF00710430. J Inherit Metab Dis. 1995. PMID: 7474905 No abstract available.

6

Late-onset form of partial N-acetylglutamate synthetase deficiency.

Elpeleg ON, Colombo JP, Amir N, Bachmann C, Hurvitz H. Elpeleg ON, et al. Among authors: colombo jp. Eur J Pediatr. 1990 Jun;149(9):634-6. doi: 10.1007/BF02034751. Eur J Pediatr. 1990. PMID: 2373115

7

N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication.

Schubiger G, Bachmann C, Barben P, Colombo JP, Tönz O, Schüpbach D. Schubiger G, et al. Among authors: colombo jp. Eur J Pediatr. 1991 Mar;150(5):353-6. doi: 10.1007/BF01955939. Eur J Pediatr. 1991. PMID: 2044610

8

N-acetylglutamate synthetase (NAGS) deficiency.

Colombo JP. Colombo JP. Adv Exp Med Biol. 1994;368:135-43. doi: 10.1007/978-1-4615-1989-8_14. Adv Exp Med Biol. 1994. PMID: 7741005 Review. No abstract available.

9

Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.

Kamoun P, Fensom AH, Shin YS, Bakker E, Colombo JP, Munnich A, Bird S, Canini S, Huijmans JG, Chadefaux-Vekemans B, et al. Kamoun P, et al. Among authors: colombo jp. Am J Med Genet. 1995 Jan 16;55(2):247-50. doi: 10.1002/ajmg.1320550220. Am J Med Genet. 1995. PMID: 7717428 Review.

10

Organic acids in urine: sample preparation for GC/MS.

Bachmann C, Bühlmann R, Colombo JP. Bachmann C, et al. Among authors: colombo jp. J Inherit Metab Dis. 1984;7 Suppl 2:126. doi: 10.1007/978-94-009-5612-4_37. J Inherit Metab Dis. 1984. PMID: 6434863 No abstract available.

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