Sylvia St�ckler-Ipsiroglu

Mutations in the complex INDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

Jan Loeffen, Orly Elpeleg, Jan Smeitink et al. · Annals of Neurology · 2001 · 193 citations

Life Sciences, Genetics, Molecular Genetics +12

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect

Marjo S. van der Knaap, Nanda M. Verhoeven, P. D. Maaswinkel‐Mooij et al. · Annals of Neurology · 2000 · 87 citations

Life Sciences, Biochemistry, Epilepsy +14

Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy

Barbara Plecko, Sylvia St�ckler-Ipsiroglu, Eduard Paschke et al. · Annals of Neurology · 2000 · 87 citations

Medicine, Neuroscience, Pharmacology +8

Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies

Dorothea M�slinger, Adolf M�hl, Terttu Suormala et al. · European Journal of Pediatrics · 2003 · 36 citations

Medicine, Genetics, Molecular Genetics +17