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Journal of Inherited Metabolic Disease|August 19, 2007
LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 geneO Y Al-Dirbashi, K K Abu-Amero, A F Alswaid, et al.
Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research|August 16, 2011
Estimating the SF-6D value set for a population-based sample of BraziliansLuciane N Cruz, Suzi A Camey, Juliana F Hoffmann, et al.
Neurochemistry International|February 17, 2007
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice)S W Sauer, S Kölker, G F Hoffmann, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|February 26, 2008
Pyridoxal phosphate-dependent neonatal epileptic encephalopathyS Bagci, J Zschocke, G F Hoffmann, et al.
Orphanet Journal of Rare Diseases|April 12, 2020
Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!Sarah C Grünert, Sara Tucci, Anke Schumann, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 14, 2023
Fat embolism syndrome in Duchenne muscular dystrophy: Report on a novel case and systematic literature reviewSabine Specht, Irina Zhukova, Jens H Westhoff, et al.
Pediatric Research|August 1, 2002
Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalonsStefan Kölker, Georg Köhr, Barbara Ahlemeyer, et al.
Human Genetics|August 2, 2001
Genetic basis of mitochondrial HMG-CoA synthase deficiencyR Aledo, J Zschocke, J Pié, et al.
Trends in Parasitology|October 26, 2011
Schistosoma comparative genomics: integrating genome structure, parasite biology and anthelmintic discoveryMartin T Swain, Denis M Larkin, Conor R Caffrey, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|November 29, 2007
Indications for pediatric liver transplantation. Data from the Heidelberg pediatric liver transplantation programG Engelmann, J Schmidt, J Oh, et al.
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