Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency.
Open Access
- 1 February 1987
- journal article
- research article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 50 (2) , 242
- https://doi.org/10.1136/jnnp.50.2.242
Abstract
No abstract availableKeywords
This publication has 8 references indexed in Scilit:
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- Neurological aspects of biopterin metabolism.Archives of Disease in Childhood, 1986
- Estimation of tetrahydrobiopterin and other pterins in cerebrospinal fluid using reversed-phase high-performance liquid chromatography with electrochemical and fluorescence detectionJournal of Chromatography B: Biomedical Sciences and Applications, 1986
- Impaired neurotransmitter amine metabolism in arginase deficiency.Journal of Neurology, Neurosurgery & Psychiatry, 1985
- Clinical role of pteridine therapy in tetrahydrobiopterin deficiencyJournal of Inherited Metabolic Disease, 1985
- Disturbed very long chain (C24–C26) fatty acid pattern in fibroblasts of patients with Zellweger's syndromeJournal of Inherited Metabolic Disease, 1984
- Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.Archives of Disease in Childhood, 1984
- Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency: Diagnosis by Measurement of Oxidized and Reduced Pterins in UrinePediatrics, 1980