S Scheibenreiter

Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin

H.‐Ch. Curtius, A. Niederwieser, M. Viscontini et al. · Clinica Chimica Acta · 1979 · 118 citations

Life Sciences, Endocrinology, Internal Medicine +5

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria

Saadet Mercimek‐Mahmutoglu, Dorothea Möeslinger, Johannes Häberle et al. · Molecular Genetics and Metabolism · 2010 · 59 citations

Medicine, Child Health, Pediatrics +12

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria

Dorothea Möslinger, Sylvia Stöckler‐Ipsiroglu, S Scheibenreiter et al. · European Journal of Pediatrics · 2001 · 55 citations

Medicine, Clinical Sciences, Pediatrics +17

Molecular heterogeneity of classical and duarte galactosemia: Mutation analysis by denaturing gradient gel electrophoresis

Susanne Greber‐Platzer, Per Guldberg, S Scheibenreiter et al. · Human Mutation · 1997 · 52 citations

Life Sciences, Genetics, Molecular Genetics +16

Long-term Follow-up of 12 Patients With the Late-Onset Variant of Argininosuccinic Acid Lyase Deficiency: No Impairment of Intellectual and Psychomotor Development During Therapy

Kurt Widhalm, S Scheibenreiter, Elisabeth Knoll · PEDIATRICS · 1992 · 42 citations

Life Sciences, Nutrition, Pediatrics +17