Author:
Niederwieser A.,Shintaku H.,Hasler Th.,Curtius H. Ch.,Lehmann H.,Guardamagna O.,Schmidt H.
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Reference8 articles.
1. Giuliani R, Costa de Costa J, Dutra-Filho CS, Niederwieser A (1983) Tetrahydrobiopterin deficiency in two patients with phenylketonuria who did not respond adequately to dietary treatment. Rev Brasil Genet VI:557?564
2. Kaufman S, Holtzman NA, Milstien S, Butler IJ, Krumholz A (1975) Phenylketonuria due to a deficiency of dihydropteridine reductase. N Engl J Med 293:785?790
3. Kaufman S, Berlow S, Summer GK, Milstien S, Schulman JD, Orloff S, Spielberg S, Pueschel S (1978) Hyperphenylalanienemia due to a deficiency of biopterin. A variant form of phenylketonuria. N Engl J Med 299:673?679
4. Niederwieser A, Curtius Ch, Bettoni O, Bieri J, Schircks B, Viscontini M, Schaub J (1979) Atypical phenylketonuria caused by 7,8-dihydrobiopterin synthetase deficiency. Lancet I:131?133
5. Niederwieser A, Blau N, Wang M, Joller P, Atar�s M, Cardesa-Garcia J (1984) GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia. Eur J Pediatr 141:208?214
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