Kaufman S.: Metabolism of the phenylalanine hydroxylation cofactor. J Biol Chem1961;242:3934-3943.
2.
Kaufman S., Holtzman NA, Milstien S., et al: Phenylketonuria due to a deficiency of dihydropteridine reductase . N Engl J Med1975;293: 785-790.
3.
Dhondt JL: Tetrahydrobiopterin deficiencies. Preliminary analysis from an international survey. J Pediatr1984;104:501-508.
4.
Buchthal F.: An Introduction to Electromyography. Copenhagen , Scandinavian University Books, 1957, p 237.
5.
Spackman DH, Stein WH, Moore S.: Automatic recording apparatus for use in the chromatography of aminoacids . Anal Chem1958;30: 1190-1206.
6.
Arai N., Narisawa K., Haykawa H., Tada K.: Hyperphenylalaninemia due to dihydropteridine reductase deficiency: Diagnosis by enzyme assays on dried blood spots. Pediatrics1982;70:426-430.
7.
Niederwieser A., Staudenmann W., Wetzel E.: High-performance liquid chromatography with column switching for the analysis of biogenic amine metabolites and pterins . J Chromatogr1984;290:237-246.
8.
Dhondt JL: Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience. J Inherited Metab Dis1991;14:117-127.
9.
Brewster TG, Moskowitz MA, Kaufman S., et al: Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia. Pediatrics1979;63:94-99.
10.
Milstien S. , Holtzman NA, O'Flynn ME, et al: Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells. J Pediatr1976;89:763-766.
11.
Dhondt JL: Tetrahydrobiopterin deficiencies: Lessons from the compilation of 200 patients . Dev Brain Dysfunct1993;6:141-157.
12.
Blau N., Thony B., Heizmann CW, Dhondt JL: Tetrahydrobiopterin deficiency: From phenotype to genotype. Pteridines1993;4:1-10.
13.
Meier C., Lütschg J., Vassella F., Bischoff A.: Progressive neural muscular atrophy in a case of phenylketonuria. Dev Med Child Neurol1975;17:625-630.
14.
Surtees R.: Biochemical pathogenesis of subacute combined degeneration of the spinal cord and brain. J Inherited Metab Dis1993;16:762-770.
