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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.Neurology|January 29, 2003
Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiencyN Nardocci, G Zorzi, N Blau, et al.Molecular Genetics and Metabolism|June 2, 2001
A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopaV T Ramaekers, J Senderek, M Häusler, et al.Acta Neurologica Scandinavica|May 8, 2018
Homocarnosinosis: A historical update and findings in the SPG11 geneO Sjaastad, N Blau, S L Rydning, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|January 1, 1997
A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severityB Hoppe, C J Danpure, G Rumsby, et al.The Journal of Biological Chemistry|April 28, 1995
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiencyH Ichinose, T Ohye, Y Matsuda, et al.Journal of Inherited Metabolic Disease|November 9, 2006
Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiencyM R Zurflüh, L Fiori, B Fiege, et al.Klinische Wochenschrift|April 1, 1986
Neopterin in AIDs, other immunodeficiencies, and bacterial and viral infectionsA Niederwieser, P Joller, R Seger, et al.Neurology|August 27, 2003
Reduced folate transport to the CNS in female Rett patientsV T Ramaekers, S I Hansen, J Holm, et al.Journal of Chemical Information and Computer Sciences|June 13, 2000
Value of the urinary stone promoters/inhibitors ratios in the estimation of the risk of urolithiasisD Batinić, D Milosević, N Blau, et al.Pageof 21