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Padiatrie Und Padologie|January 1, 1982
[Lethal neonatal deficiency of carbamyl phosphate synthetase (author's transl)]E Plöchl, C Bachmann, O Stöllinger, et al.American Journal of Medical Genetics. Supplement|January 1, 1986
Biotin and Rett syndromeC Bachmann, J P Colombo, E Gugler, et al.European Journal of Pediatrics|April 1, 1986
Rett syndrome revisited: a patient with biotin dependencyC Bachmann, J Schaub, J P Colombo, et al.Pediatrics|June 1, 1992
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 therapyK Widhalm, S Koch, S Scheibenreiter, et al.Biochemical and Biophysical Research Communications|March 15, 1989
In vivo 31P NMR spectroscopy of energy rich phosphates in the brain of the hyperammonemic ratR Friolet, J P Colombo, F Lazeyras, et al.European Journal of Pediatrics|May 1, 1990
Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblingsC Catzeflis, C Bachmann, D E Hale, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Ornithine carbamoyl transferase deficiency: findings, models and problemsC BachmannPageof 25