384 related articles for article (PubMed ID: 19172809)
1. [Biopterin and child neurologic disease].
Shintaku H
No To Hattatsu; 2009 Jan; 41(1):5-10. PubMed ID: 19172809
[TBL] [Abstract][Full Text] [Related]
2. Disorders of tetrahydrobiopterin metabolism and their treatment.
Shintaku H
Curr Drug Metab; 2002 Apr; 3(2):123-31. PubMed ID: 12003346
[TBL] [Abstract][Full Text] [Related]
3. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
Thöny B; Blau N
Hum Mutat; 2006 Sep; 27(9):870-8. PubMed ID: 16917893
[TBL] [Abstract][Full Text] [Related]
4. Molecular and metabolic bases of tetrahydrobiopterin (BH
Himmelreich N; Blau N; Thöny B
Mol Genet Metab; 2021 Jun; 133(2):123-136. PubMed ID: 33903016
[TBL] [Abstract][Full Text] [Related]
5. 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; 74(1-2):172-85. PubMed ID: 11592814
[TBL] [Abstract][Full Text] [Related]
6. Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.
Bonafé L; Thöny B; Leimbacher W; Kierat L; Blau N
Clin Chem; 2001 Mar; 47(3):477-85. PubMed ID: 11238300
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 22729819
[TBL] [Abstract][Full Text] [Related]
8. Disorders of biopterin metabolism.
Longo N
J Inherit Metab Dis; 2009 Jun; 32(3):333-42. PubMed ID: 19234759
[TBL] [Abstract][Full Text] [Related]
9. Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin.
Nagatsu T; Ichinose H
Mol Neurobiol; 1999 Feb; 19(1):79-96. PubMed ID: 10321973
[TBL] [Abstract][Full Text] [Related]
10. [The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency].
Ye J; Qiu WJ; Han LS; Zhou JD; Gao XL; Gu XF
Zhonghua Yu Fang Yi Xue Za Zhi; 2009 Feb; 43(2):128-31. PubMed ID: 19534905
[TBL] [Abstract][Full Text] [Related]
11. Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.
Khatami S; Dehnabeh SR; Zeinali S; Thöny B; Alaei M; Salehpour S; Setoodeh A; Rohani F; Hajivalizadeh F; Samavat A
JIMD Rep; 2017; 32():7-14. PubMed ID: 27246466
[TBL] [Abstract][Full Text] [Related]
12. Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation.
Sato H; Uematsu M; Endo W; Nakayama T; Kobayashi T; Hino-Fukuyo N; Sakamoto O; Shintaku H; Kure S
Brain Dev; 2014 Mar; 36(3):268-71. PubMed ID: 23660475
[TBL] [Abstract][Full Text] [Related]
13. [Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China].
Ye J; Qiu WJ; Han LS; Zhang HW; Zhou JD; Gao XL; Wang Y; Gu XF
Zhonghua Er Ke Za Zhi; 2008 Apr; 46(4):281-5. PubMed ID: 19099731
[TBL] [Abstract][Full Text] [Related]
14. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH
Opladen T; López-Laso E; Cortès-Saladelafont E; Pearson TS; Sivri HS; Yildiz Y; Assmann B; Kurian MA; Leuzzi V; Heales S; Pope S; Porta F; García-Cazorla A; Honzík T; Pons R; Regal L; Goez H; Artuch R; Hoffmann GF; Horvath G; Thöny B; Scholl-Bürgi S; Burlina A; Verbeek MM; Mastrangelo M; Friedman J; Wassenberg T; Jeltsch K; Kulhánek J; Kuseyri Hübschmann O;
Orphanet J Rare Dis; 2020 May; 15(1):126. PubMed ID: 32456656
[TBL] [Abstract][Full Text] [Related]
15. Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.
Ye J; Liu X; Ma X; Zhang Y; Huang X; Chen R; Gu X
Chin Med J (Engl); 2002 Feb; 115(2):217-21. PubMed ID: 11940335
[TBL] [Abstract][Full Text] [Related]
16. 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
[TBL] [Abstract][Full Text] [Related]
17. Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia.
Coşkun T; Karagöz T; Kalkanoğlu S; Tokatli A; Ozalp I; Thöny B; Blau N
Turk J Pediatr; 1999; 41(2):231-7. PubMed ID: 10770663
[TBL] [Abstract][Full Text] [Related]
18. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
Bonafé L; Thöny B; Penzien JM; Czarnecki B; Blau N
Am J Hum Genet; 2001 Aug; 69(2):269-77. PubMed ID: 11443547
[TBL] [Abstract][Full Text] [Related]
19. [Study on tetrahydrobiopterin deficiency in Northern Chinese population].
Wang L; Yu WM; Li XW; He C; Chang M; Shen M; Zhao SP; Fu GX; Shen S; Liu TT; Hsiao KJ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun; 23(3):275-9. PubMed ID: 16767663
[TBL] [Abstract][Full Text] [Related]
20. Malignant phenylketonuria due to defective synthesis of dihydrobiopterin.
Cohen BE; Szeinberg A; Quint J; Normand M; Blonder J; Peled I
Isr J Med Sci; 1985 Jun; 21(6):520-5. PubMed ID: 3874852
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]