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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.
Journal of the Neurological Sciences|February 13, 2001
Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndromeM A Willemsen, J J Rotteveel, J G de Jong, et al.
Biopolymers|May 14, 2015
(R)-α-trifluoromethylalanine containing short peptide in the inhibition of amyloid peptide fibrillationAlexandra Botz, Vincent Gasparik, Emmanuelle Devillers, et al.
Neuropediatrics|October 9, 2002
Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapiesA Fiumara, C Bräutigam, K Hyland, et al.
Stem Cell Research|April 9, 2019
Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1Dominic Lenz, Christian Staufner, Selina Wächter, et al.
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