Neurological aspects of biopterin metabolism.

Author:

Smith I,Leeming R J,Cavanagh N P,Hyland K

Publisher

BMJ

Subject

Pediatrics, Perinatology and Child Health

Reference18 articles.

1. Regulatory properties of pterin dependent hydroxylases. Variations on a theme;Kaufman, S.,1981

2. New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction;Smith, I.; Clayton, B.E.; Wolff, O.H.;Lancet,1975

3. Malignant hyperphenylalaninaemia-current status;Danks, D.M.; Bartholome, K.; Clayton, B.E.;Journal of Inherited Metabolic Disease,1977

4. Phenylketonuria due to a deficiency of dihydropteridine reductase;Kaufman, S.; Holtzman, N.A.; Milstien, S.; Butler, I.J.; Krumholz, A.;N Engl J Med,1975

5. Les hyperphenylalaninemies avec activite normale de la phenylalanine-hydroxylase. Le deficit en tetrahydrobiopterine et le deficit en dihydropteridine reductase;Rey, F.; Harpey, J.P.; Leeming, R.J.; Blair, J.A.; Aicardi, J.; Rey, J.;Arch Fr Pediatr,1977

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1. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies;Orphanet Journal of Rare Diseases;2020-05-26

2. Inborn errors of amino acid metabolism phenylketonuria and disorders of biopterin metabolism;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020

3. Inborn Errors of Amino Acid Metabolism;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2015

4. Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin;Atlas of Inherited Metabolic Diseases 3E;2011-12-30

5. Dopa-responsive dystonia simulating cerebral palsy;Pediatric Neurology;1994-10

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