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Journal Abstract Search
112 related items for PubMed ID: 2452621
1. [Detection, differential diagnosis, and prenatal diagnosis of tetrahydrobiopterin deficiency]. Niederwieser A, Curtius HC. Arch Fr Pediatr; 1987; 44 Suppl 1():661-4. PubMed ID: 2452621 [No Abstract] [Full Text] [Related]
2. [Disorders of tetrahydrobiopterin homeostasis]. Shintaku H, Asada M, Isshiki G, Sawada Y. Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):125-9. PubMed ID: 9590005 [No Abstract] [Full Text] [Related]
3. Response of 6-pyruvoyl-tetrahydropterin synthase deficiency to tetrahydrobiopterin. al Aqeel A, Ozand PT, Gascon GG, Hughes H, Reynolds CT, Subramanyam SB. J Child Neurol; 1992 Apr; 7 Suppl():S26-30. PubMed ID: 1588012 [Abstract] [Full Text] [Related]
4. Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test. Ponzone A, Guardamagna O, Spada M, Ferraris S, Ponzone R, Kierat L, Blau N. Eur J Pediatr; 1993 Aug; 152(8):655-61. PubMed ID: 8404969 [Abstract] [Full Text] [Related]
6. Dihydrobiopterin synthesis defect: an adult with diurnal fluctuation of symptoms. Tanaka K, Yoneda M, Nakajima T, Miyatake T, Owada M. Neurology; 1987 Mar; 37(3):519-22. PubMed ID: 2434882 [Abstract] [Full Text] [Related]
7. A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. Ashida A, Owada M, Hatakeyama K. Genomics; 1994 Nov 15; 24(2):408-10. PubMed ID: 7698774 [No Abstract] [Full Text] [Related]
8. Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin. Matalon R, Michals K, Blau N, Rouse B. Adv Pediatr; 1989 Nov 15; 36():67-89. PubMed ID: 2675577 [No Abstract] [Full Text] [Related]
15. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Blau N, Bonafé L, Thöny B. Mol Genet Metab; 2001 Nov 15; 74(1-2):172-85. PubMed ID: 11592814 [Abstract] [Full Text] [Related]
16. [Trial of indirect screening of tetrahydrobiopterin deficiency]. Ferraris S, Guardamagna O, Bracco G, Ponzone A. Pediatrie; 1987 Nov 15; 42(7):549-55. PubMed ID: 3444720 [Abstract] [Full Text] [Related]