Daniela Skladal

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

Daniela Skladal · Brain · 2003 · 492 citations · Full text

Public Health, Child Health, Pediatrics +14

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

Hong‐Zhi Gao, Keiko Kobayashi, Ayako Tabata et al. · Human Mutation · 2003 · 84 citations

Life Sciences, Genetics, Molecular Genetics +17

Oral creatine supplementation in Duchenne muscular dystrophy: A clinical and 31 P magnetic resonance spectroscopy study

Stephan Felber, Daniela Skladal, Markus Wyss et al. · Neurological Research · 2000 · 83 citations

Life Sciences, Biochemistry, Physiology +15

Propionic Acidemia Revisited: A Workshop Report

Jörn Oliver Sass, Mary T. Hofmann, Daniela Skladal et al. · Clinical Pediatrics · 2004 · 77 citations

Life Sciences, Biochemistry, Clinical Biochemistry +15

Clinical heterogeneity in patients with mutations in the <i>NDUFS4</i> gene of mitochondrial complex I

Sandy Budde, Lambert P.W.J. van den Heuvel, Roel Smeets et al. · Journal of Inherited Metabolic Disease · 2003 · 73 citations

Life Sciences, Genetics, Molecular Genetics +12