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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: bachmann c. J Inherit Metab Dis. 1989;12(3):343. doi: 10.1007/BF01799236. J Inherit Metab Dis. 1989. PMID: 2515385 No abstract available.
Reference values of amino acids and of common clinical chemistry in plasma of healthy infants aged 1 and 4 months.
Haschke-Becher E, Kainz A, Bachmann C. Haschke-Becher E, et al. Among authors: bachmann c. J Inherit Metab Dis. 2016 Jan;39(1):25-37. doi: 10.1007/s10545-015-9870-4. Epub 2015 Jul 31. J Inherit Metab Dis. 2016. PMID: 26227325
[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: bachmann c. Klin Padiatr. 1990 Mar-Apr;202(2):76-80. doi: 10.1055/s-2007-1025492. Klin Padiatr. 1990. PMID: 1691326 German.
Biotinidase deficiency: clinical course and biochemical findings.
Schubiger G, Caflisch U, Baumgartner R, Suormala T, Bachmann C. Schubiger G, et al. Among authors: bachmann c. J Inherit Metab Dis. 1984;7(3):129-30. doi: 10.1007/BF01801771. J Inherit Metab Dis. 1984. PMID: 6438396 No abstract available.
Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency.
Di Rocco M, Superti-Furga A, Durand P, Cerone R, Romano C, Bachmann C, Baumgartner R. Di Rocco M, et al. Among authors: bachmann c. J Inherit Metab Dis. 1984;7 Suppl 2:119-20. doi: 10.1007/978-94-009-5612-4_34. J Inherit Metab Dis. 1984. PMID: 6434860 No abstract available.
N-acetylglutamate synthetase deficiency, a second patient.
Bachmann C, Brandis M, Weissenbarth-Riedel E, Burghard R, Colombo JP. Bachmann C, et al. J Inherit Metab Dis. 1988;11(2):191-3. doi: 10.1007/BF01799871. J Inherit Metab Dis. 1988. PMID: 3139931
beta-Ketothiolase deficiency with favourable evolution.
Sabetta G, Bachmann C, Giardini O, Castro M, Gambarara M, Vici CD, Bartlett K, Middleton B. Sabetta G, et al. Among authors: bachmann c. J Inherit Metab Dis. 1987;10(4):405-6. doi: 10.1007/BF01799988. J Inherit Metab Dis. 1987. PMID: 3126364 No abstract available.
Biotinidase deficiency: metabolites in CSF.
Fois A, Cioni M, Balestri P, Bartalini G, Baumgartner R, Bachmann C. Fois A, et al. Among authors: bachmann c. J Inherit Metab Dis. 1986;9(3):284-5. doi: 10.1007/BF01799663. J Inherit Metab Dis. 1986. PMID: 3099073 No abstract available.
Prenatal exclusion of ornithine transcarbamylase (OTC) by using RFLP analysis.
Liechti S, Dionisi Vici C, Bachmann C, Mazziotta MR, Bartuli A, Sabetta G. Liechti S, et al. Among authors: bachmann c. J Inherit Metab Dis. 1990;13(6):888-90. doi: 10.1007/BF01800215. J Inherit Metab Dis. 1990. PMID: 1981921 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: bachmann c. J Inherit Metab Dis. 1992;15(3):395-8. doi: 10.1007/BF02435986. J Inherit Metab Dis. 1992. PMID: 1405478 No abstract available.
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