L. Kierat

Cerebrospinal fluid pterins and folates in Aicardi-Goutieres syndrome

Nenad Blau, Luisa Bonafé, I. Krägeloh‐Mann et al. · Neurology · 2003 · 116 citations

Diagnosis of Dopa-responsive Dystonia and Other Tetrahydrobiopterin Disorders by the Study of Biopterin Metabolism in Fibroblasts

Luisa Bonafé, Beat Thöny, W. Leimbacher et al. · Clinical Chemistry · 2001 · 94 citations · Full text

Hyperphenylalaninemia with High Levels of 7-Biopterin is Associated with Mutations in the PCBD Gene Encoding the Bifunctional Protein Pterin-4a-Carbinolamine Dehydratase and Transcriptional Coactivator (DCoH)

Beat Thöny, F. Neuheiser, L. Kierat et al. · The American Journal of Human Genetics · 1998 · 53 citations · Full text

Biochemistry, Pcbd Gene Encoding, Natural Sciences +7

Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test

A Ponzone, Ornella Guardamagna, Marco Spada et al. · European Journal of Pediatrics · 1993 · 42 citations

Biochemistry, Medicine, Differential Diagnosis +4

Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper

Marcel R. Zurflüh, Marcello Giovannini, Laura M. Fiori et al. · Molecular Genetics and Metabolism · 2005 · 38 citations

Dried Blood Spots, Medicine, Bioanalysis +5