H Korall

Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin

Friedrich K. Trefz, D. Scheible, Georg Frauendienst‐Egger et al. · Molecular Genetics and Metabolism · 2005 · 67 citations

Life Sciences, Pharmacotherapy, Clinical Biochemistry +3

Long-Term Treatment with Sodium Phenylbutyrate in Ornithine Transcarbamylase-Deficient Patients

Alberto Burlina, H Ogier, H Korall et al. · Molecular Genetics and Metabolism · 2001 · 61 citations

Life Sciences, Pharmacology, Pharmacotherapy +7

<b>Characterization of seven novel mutations in seven patients with GAMT deficiency</b>

Chike Bellarmine Item, Saadet Mercimek‐Mahmutoglu, Roberta Battini et al. · Human Mutation · 2004 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Neonatal screening for citrullinaemia

Johannes Sander, Nils Janzen, Stefanie Sander et al. · European Journal of Pediatrics · 2003 · 46 citations

Medicine, Child Health, Pediatrics +8

Monitoring of 4‐hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency

Katrin Ergezinger, R Jeschke, Georg Frauendienst‐Egger et al. · Annals of Neurology · 2003 · 33 citations

Life Sciences, Pharmacology, Pharmacotherapy +13