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195 results
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3-Hydroxy-3-methylglutaryl-CoA-lyase deficiency.
Ploechl E, Bachmann C, Colombo JP, Gibson KM. Ploechl E, et al. Among authors: colombo jp. J Inherit Metab Dis. 1989;12(3):343. doi: 10.1007/BF01799236. J Inherit Metab Dis. 1989. PMID: 2515385 No abstract available.
[Carnitine deficiency and carnitine therapy in a patient with Rett syndrome].
Plöchl E, Sperl W, Wermuth B, Colombo JP. Plöchl E, et al. Among authors: colombo jp. Klin Padiatr. 1996 May-Jun;208(3):129-34. doi: 10.1055/s-2008-1046461. Klin Padiatr. 1996. PMID: 8676601 German.
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-hydroxy-3-methylglutaraturia. Clinical aspects, follow-up and therapy in a young child].
Plöchl E, Bachmann C, Colombo JP, Gibson KM. Plöchl E, et al. Among authors: colombo jp. Klin Padiatr. 1990 Mar-Apr;202(2):76-80. doi: 10.1055/s-2007-1025492. Klin Padiatr. 1990. PMID: 1691326 German.
Increased plasma amylase in the family of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
Plöchl E, Colombo JP, Wermuth B, Gibson KM. Plöchl E, et al. Among authors: colombo jp. Clin Chem. 1992 Feb;38(2):307-9. Clin Chem. 1992. PMID: 1371725
Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy.
Widhalm K, Koch S, Scheibenreiter S, Knoll E, Colombo JP, Bachmann C, Thalhammer O. Widhalm K, et al. Among authors: colombo jp. Pediatrics. 1992 Jun;89(6 Pt 2):1182-4. Pediatrics. 1992. PMID: 1594374
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.
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.
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.
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
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