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Items: 1 to 20 of 164

1.

Disorders of biopterin metabolism.

Longo N.

J Inherit Metab Dis. 2009 Jun;32(3):333-42. doi: 10.1007/s10545-009-1067-2. Epub 2009 Feb 9. Review. Erratum in: J Inherit Metab Dis. 2009 Jun;32(3):457.

PMID:
19234759
2.

Disorders of tetrahydrobiopterin metabolism and their treatment.

Shintaku H.

Curr Drug Metab. 2002 Apr;3(2):123-31. Review.

PMID:
12003346
4.

[Biopterin and child neurologic disease].

Shintaku H.

No To Hattatsu. 2009 Jan;41(1):5-10. Review. Japanese.

PMID:
19172809
5.
6.

Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency.

Dhondt JL.

J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S219-23. doi: 10.1007/s10545-010-9091-9. Epub 2010 May 11.

PMID:
20458544
7.

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.

PMID:
8404969
8.

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.

Opladen T, Hoffmann GF, Blau N.

J Inherit Metab Dis. 2012 Nov;35(6):963-73. doi: 10.1007/s10545-012-9506-x. Epub 2012 Jun 23.

PMID:
22729819
9.
10.

Differential diagnosis of tetrahydrobiopterin deficiency.

Niederwieser A, Ponzone A, Curtius HC.

J Inherit Metab Dis. 1985;8 Suppl 1:34-8.

PMID:
3930839
11.

Tetrahydrobiopterin deficiency and an international database of patients.

Blau N, Dhondt JL.

Adv Exp Med Biol. 1993;338:255-61. No abstract available.

PMID:
8304121
12.

Tetrahydrobiopterin biosynthesis, regeneration and functions.

Thöny B, Auerbach G, Blau N.

Biochem J. 2000 Apr 1;347 Pt 1:1-16. Review.

13.

Clinical role of pteridine therapy in tetrahydrobiopterin deficiency.

Smith I, Hyland K, Kendall B.

J Inherit Metab Dis. 1985;8 Suppl 1:39-45.

PMID:
3930840
14.

Tetrahydrobiopterin: biochemistry and pathophysiology.

Werner ER, Blau N, Thöny B.

Biochem J. 2011 Sep 15;438(3):397-414. doi: 10.1042/BJ20110293. Review.

PMID:
21867484
15.

Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue.

Blau N, Kierat L, Matasovic A, Leimbacher W, Heizmann CW, Guardamagna O, Ponzone A.

Clin Chim Acta. 1994 May;226(2):159-69.

PMID:
7923811
17.

[The metabolic basis of the hyperphenylalaninemias and tyrosinemia].

Shintaku H.

Nihon Rinsho. 1992 Jul;50(7):1542-7. Japanese.

PMID:
1357201
18.

Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin.

Nagatsu T, Ichinose H.

Mol Neurobiol. 1999 Feb;19(1):79-96. Review.

PMID:
10321973
19.

Tetrahydrobiopterin and inherited hyperphenylalaninemias.

Blau N, Thony B, Spada M, Ponzone A.

Turk J Pediatr. 1996 Jan-Mar;38(1):19-35. Review.

PMID:
8819618
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