408 related articles for article (PubMed ID: 12003346)
21. 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]
22. [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]
23. 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]
24. Tetrahydrobiopterin: biochemistry and pathophysiology.
Werner ER; Blau N; Thöny B
Biochem J; 2011 Sep; 438(3):397-414. PubMed ID: 21867484
[TBL] [Abstract][Full Text] [Related]
25. Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.
Thöny B; Leimbacher W; Blau N; Harvie A; Heizmann CW
Am J Hum Genet; 1994 May; 54(5):782-92. PubMed ID: 8178819
[TBL] [Abstract][Full Text] [Related]
26. Tetrahydrobiopterin and inherited hyperphenylalaninemias.
Blau N; Thony B; Spada M; Ponzone A
Turk J Pediatr; 1996; 38(1):19-35. PubMed ID: 8819618
[TBL] [Abstract][Full Text] [Related]
27. Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism-From Past to Future.
Jung-Klawitter S; Kuseyri Hübschmann O
Cells; 2019 Aug; 8(8):. PubMed ID: 31405045
[TBL] [Abstract][Full Text] [Related]
28. Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.
Liu TT; Chiang SH; Wu SJ; Hsiao KJ
Clin Chim Acta; 2001 Nov; 313(1-2):157-69. PubMed ID: 11694255
[TBL] [Abstract][Full Text] [Related]
29. [Malignant hyperphenylalaninemia--tetrahydrobiopterin (BH4) deficiency].
Shintaku H
Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):493-6. PubMed ID: 3270853
[No Abstract] [Full Text] [Related]
30. Monoamine neurotransmitter deficiencies.
Pearl PL
Handb Clin Neurol; 2013; 113():1819-25. PubMed ID: 23622404
[TBL] [Abstract][Full Text] [Related]
31. Retrovirus-mediated double transduction of the GTPCH and PTPS genes allows 6-pyruvoyltetrahydropterin synthase-deficient human fibroblasts to synthesize and release tetrahydrobiopterin.
Laufs S; Blau N; Thöny B
J Neurochem; 1998 Jul; 71(1):33-40. PubMed ID: 9648848
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis.
Güttler F; Lou H; Lykkelund C; Niederwieser A
Eur J Pediatr; 1984 Jun; 142(2):126-9. PubMed ID: 6468427
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. [Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation].
Ye J; Liu XQ; Qiu WJ; Han LS; Zhou JD; Zhang YF; Gu XF
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Apr; 24(2):210-2. PubMed ID: 17407085
[TBL] [Abstract][Full Text] [Related]
36. [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].
Dhondt JL; Hayte JM
Ann Biol Clin (Paris); 2002; 60(2):165-71. PubMed ID: 11937441
[TBL] [Abstract][Full Text] [Related]
37. Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice.
Scherer T; Allegri G; Sarkissian CN; Ying M; Grisch-Chan HM; Rassi A; Winn SR; Harding CO; Martinez A; Thöny B
J Inherit Metab Dis; 2018 Jul; 41(4):709-718. PubMed ID: 29520738
[TBL] [Abstract][Full Text] [Related]
38. Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia.
Pogson D
J Intellect Disabil Res; 1997 Jun; 41 ( Pt 3)():208-14. PubMed ID: 9219069
[TBL] [Abstract][Full Text] [Related]
39. Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria.
Michals-Matalon K
Expert Opin Investig Drugs; 2008 Feb; 17(2):245-51. PubMed ID: 18230057
[TBL] [Abstract][Full Text] [Related]
40. Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency.
Dhondt JL
J Inherit Metab Dis; 2010 Oct; 33(Suppl 2):S219-23. PubMed ID: 20458544
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
