Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
European Journal of Pediatrics|August 1, 1993
Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading testA Ponzone, O Guardamagna, M Spada, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 1, 1994
Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissueN Blau, L Kierat, A Matasovic, et al.
Neurology|September 10, 2003
Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotypeN Blau, L Bonafé, I Krägeloh-Mann, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 16, 1993
Hyperphenylalaninemia and pterin metabolism in serum and erythrocytesA Ponzone, O Guardamagna, M Spada, et al.
Biochimica Et Biophysica Acta|June 30, 1985
Synthesis and secretion of the human vitamin B12-binding protein, transcobalamin II, by cultured skin fibroblasts and by bone marrow cellsM Fràter-Schröder, H J Porck, J Erten, et al.
Clinical Genetics|May 1, 1986
Indication against genetic localisation of the human transcobalamin II gene (TC2) on chromosome 16M Gallmann, M Fràter-Schröder, W Scheffrahn, et al.
Biochemical and Molecular Medicine|August 1, 1996
Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficienciesN Blau, J B de Klerk, B Thöny, et al.
American Journal of Human Genetics|June 19, 1998
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)B Thöny, F Neuheiser, L Kierat, et al.
Human Genetics|October 6, 1998
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemiaB Thöny, F Neuheiser, L Kierat, et al.
Pageof 2