Bachmann C - Search Results

1

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.

2

Laryngeal stridor as a leading symptom in a biotinidase-deficient patient.

Dionisi-Vici C, Bachmann C, Graziani MC, Sabetta G. Dionisi-Vici C, et al. Among authors: bachmann c. J Inherit Metab Dis. 1988;11(3):312-3. doi: 10.1007/BF01800381. J Inherit Metab Dis. 1988. PMID: 3148078 No abstract available.

3

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement.

Dionisi Vici C, Bachmann C, Gambarara M, Colombo JP, Sabetta G. Dionisi Vici C, et al. Among authors: bachmann c. Pediatr Res. 1987 Sep;22(3):364-7. doi: 10.1203/00006450-198709000-00025. Pediatr Res. 1987. PMID: 3116497

4

Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

Dionisi Vici C, Burlina AB, Bertini E, Bachmann C, Mazziotta MR, Zacchello F, Sabetta G, Hale DE. Dionisi Vici C, et al. Among authors: bachmann c. J Pediatr. 1991 May;118(5):744-6. doi: 10.1016/s0022-3476(05)80039-3. J Pediatr. 1991. PMID: 2019931 No abstract available.

5

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.

6

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.

7

Increased NO production in lysinuric protein intolerance.

Mannucci L, Emma F, Markert M, Bachmann C, Boulat O, Carrozzo R, Rizzoni G, Dionisi-Vici C. Mannucci L, et al. Among authors: bachmann c. J Inherit Metab Dis. 2005;28(2):123-9. doi: 10.1007/s10545-005-5954-x. J Inherit Metab Dis. 2005. PMID: 15877200

8

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

9

Ornithine transcarbamylase variant in a male patient.

Stöckler S, Grossschädl F, Bachmann C, Roscher A. Stöckler S, et al. Among authors: bachmann c. J Inherit Metab Dis. 1987;10(3):272. doi: 10.1007/BF01800077. J Inherit Metab Dis. 1987. PMID: 3123789 No abstract available.

10

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.

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