메뉴 건너뛰기




Volumn 32, Issue 3, 2009, Pages 333-342

Erratum: Disorders of biopterin metabolism (Journal of Inherited Metabolic Disease (2009) 10.1007/s10545-009-1067-2);Disorders of biopterin metabolism

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYTRYPTOPHAN; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; BIOPTERIN; CARBIDOPA; CARBIDOPA PLUS LEVODOPA; FOLIC ACID; FOLINIC ACID; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; MONOAMINE OXIDASE B INHIBITOR; NITRIC OXIDE SYNTHASE; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; SEPIAPTERIN REDUCTASE; TETRAHYDROBIOPTERIN; TRYPTOPHAN HYDROXYLASE; TYROSINE 3 MONOOXYGENASE;

EID: 67349085037     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-9964-y     Document Type: Erratum
Times cited : (121)

References (45)
  • 1
    • 33745695582 scopus 로고    scopus 로고
    • Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia
    • doi: 10.1016/j.ymgme.2006.03.010
    • Abeling NG, Duran M, Bakker HD, et al (2006) Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Mol Genet Metab 89 (1-2): 116-120. doi: 10.1016/j.ymgme.2006.03.010.
    • (2006) Mol Genet Metab , vol.89 , Issue.1-2 , pp. 116-120
    • Abeling, N.G.1    Duran, M.2    Bakker, H.D.3
  • 3
    • 0016404247 scopus 로고
    • Letter: A new molecular defect in phenylketonuria
    • doi: 10.1016/S0140-6736(74)90337-7
    • Bartholomé K (1974) Letter: A new molecular defect in phenylketonuria. Lancet 304 (7896): 1580. doi: 10.1016/ S0140-6736(74)90337-7.
    • (1974) Lancet , vol.304 , Issue.7896 , pp. 1580
    • Bartholomé, K.1
  • 4
    • 0034928621 scopus 로고    scopus 로고
    • Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
    • doi: 10.1086/321970
    • Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N (2001) Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 69 (2): 269-277. doi: 10.1086/321970.
    • (2001) Am J Hum Genet , vol.69 , Issue.2 , pp. 269-277
    • Bonafe, L.1    Thony, B.2    Penzien, J.M.3    Czarnecki, B.4    Blau, N.5
  • 6
    • 0025203727 scopus 로고
    • 7-Substituted pterins: Formation during phenylalanine hydroxylation in the absence of dehydratase
    • doi: 10.1016/0006-291X(90)91554-6
    • Curtius HC, Adler C, Rebrin I, Heizmann C, Ghisla S (1990) 7-Substituted pterins: Formation during phenylalanine hydroxylation in the absence of dehydratase. Biochem Biophys Res Commun 172 (3): 1060-1066. doi: 10.1016/ 0006-291X(90)91554-6.
    • (1990) Biochem Biophys Res Commun , vol.172 , Issue.3 , pp. 1060-1066
    • Curtius, H.C.1    Adler, C.2    Rebrin, I.3    Heizmann, C.4    Ghisla, S.5
  • 7
    • 18344402636 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in dihydropteridine reductase deficiency
    • doi: 10.1023/A: 1005662710891
    • de Sanctis L, Alliaudi C, Spada M, et al (2000) Genotype-phenotype correlation in dihydropteridine reductase deficiency. J Inherit Metab Dis 23 (4): 333-337. doi: 10.1023/A: 1005662710891.
    • (2000) J Inherit Metab Dis , vol.23 , Issue.4 , pp. 333-337
    • de Sanctis, L.1    Alliaudi, C.2    Spada, M.3
  • 8
    • 0035044616 scopus 로고    scopus 로고
    • Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency
    • doi: 10.1007/s004310000722
    • Dudešek A, Roschinger W, Muntau AC (2001) Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. Eur J Pediatr 160 (5): 267-276. doi: 10.1007/s004310000722.
    • (2001) Eur J Pediatr , vol.160 , Issue.5 , pp. 267-276
    • Dudešek, A.1    Roschinger, W.2    Muntau, A.C.3
  • 9
    • 33750349964 scopus 로고    scopus 로고
    • Sepiapterin reductase deficiency: Clinical presentation and evaluation of long-term therapy
    • doi: 10.1016/j.pediatrneurol.2006.05.006
    • Echenne B, Roubertie A, Assmann B (2006) Sepiapterin reductase deficiency: Clinical presentation and evaluation of long-term therapy. Pediatr Neurol 35 (5): 308-313. doi: 10.1016/j.pediatrneurol.2006.05.006.
    • (2006) Pediatr Neurol , vol.35 , Issue.5 , pp. 308-313
    • Echenne, B.1    Roubertie, A.2    Assmann, B.3
  • 10
    • 33845709898 scopus 로고    scopus 로고
    • Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency
    • doi: 10.1212/01.wnl.0000247274.21261.b4
    • Friedman J, Hyland K, Blau N, MacCollin M (2006) Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency. Neurology 67 (11): 2032-2035. doi: 10.1212/ 01.wnl.0000247274.21261.b4.
    • (2006) Neurology , vol.67 , Issue.11 , pp. 2032-2035
    • Friedman, J.1    Hyland, K.2    Blau, N.3    MacCollin, M.4
  • 11
    • 33646070562 scopus 로고    scopus 로고
    • Can the DCoHalpha isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency?
    • doi: 10.1016/j.ymgme.2005.11.014
    • Hevel JM, Stewart JA, Gross KL, Ayling JE (2006) Can the DCoHalpha isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency? Mol Genet Metab 88 (1): 38-46. doi: 10.1016/ j.ymgme.2005.11.014.
    • (2006) Mol Genet Metab , vol.88 , Issue.1 , pp. 38-46
    • Hevel, J.M.1    Stewart, J.A.2    Gross, K.L.3    Ayling, J.E.4
  • 12
    • 0000024184 scopus 로고
    • Note on a yellow pigment from butterflies
    • Hopkins FG (1889) Note on a yellow pigment from butterflies. Nature 40: 355.
    • (1889) Nature , vol.40 , pp. 355
    • Hopkins, F.G.1
  • 13
    • 7744226301 scopus 로고
    • A contribution to the chemistry of pterins
    • Hopkins FG (1942) A contribution to the chemistry of pterins. Proc R Soc 130: 359-379.
    • (1942) Proc R Soc , vol.130 , pp. 359-379
    • Hopkins, F.G.1
  • 14
    • 41949127862 scopus 로고    scopus 로고
    • Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms
    • doi: 10.1016/j.ymgme.2008.01.003
    • Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R, et al (2008) Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms. Mol Genet Metab 94 (1): 127-131. doi: 10.1016/j.ymgme.2008.01.003.
    • (2008) Mol Genet Metab , vol.94 , Issue.1 , pp. 127-131
    • Horvath, G.A.1    Stockler-Ipsiroglu, S.G.2    Salvarinova-Zivkovic, R.3
  • 15
    • 34249823680 scopus 로고    scopus 로고
    • Inherited disorders affecting dopamine and serotonin: Critical neurotransmitters derived from aromatic amino acids
    • discussion 1573S-1575S
    • Hyland K (2007) Inherited disorders affecting dopamine and serotonin: critical neurotransmitters derived from aromatic amino acids. J Nutr 137 (6 Supplement 1): 1568S-1572S; discussion 1573S-1575S.
    • (2007) J Nutr , vol.137 , Issue.6 SUPPL. 1
    • Hyland, K.1
  • 16
    • 42449129221 scopus 로고    scopus 로고
    • Clinical utility of monoamine neurotransmitter metabolite analysis in cerebrospinal fluid
    • doi: 10.1373/clinchem.2007.099986
    • Hyland K (2008) Clinical utility of monoamine neurotransmitter metabolite analysis in cerebrospinal fluid. Clin Chem 54 (4): 633-641. doi: 10.1373/clinchem.2007.099986.
    • (2008) Clin Chem , vol.54 , Issue.4 , pp. 633-641
    • Hyland, K.1
  • 17
    • 0023239734 scopus 로고
    • Folinic acid therapy in treatment of dihydropteridine reductase deficiency
    • doi: 10.1016/S0022-3476(87)80289-5
    • Irons M, Levy HL, O'Flynn ME, et al (1987) Folinic acid therapy in treatment of dihydropteridine reductase deficiency. J Pediatr 110 (1): 61-67. doi: 10.1016/S0022-3476(87)80289-5.
    • (1987) J Pediatr , vol.110 , Issue.1 , pp. 61-67
    • Irons, M.1    Levy, H.L.2    O'Flynn, M.E.3
  • 18
    • 38849083411 scopus 로고    scopus 로고
    • Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency
    • doi: 10.1016/j.ymgme.2007.10.004
    • Jaggi L, Zurfluh MR, Schuler A, et al (2008) Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab 93 (3): 295-305. doi: 10.1016/j.ymgme.2007.10.004.
    • (2008) Mol Genet Metab , vol.93 , Issue.3 , pp. 295-305
    • Jaggi, L.1    Zurfluh, M.R.2    Schuler, A.3
  • 19
    • 58149138838 scopus 로고    scopus 로고
    • Vascular protection by tetrahydrobiopterin: Progress and therapeutic prospects
    • Katusic ZS, d'Uscio LV, Nath KA (2009) Vascular protection by tetrahydrobiopterin: Progress and therapeutic prospects. Trends Pharmacol Sci 30 (1): 48-54.
    • (2009) Trends Pharmacol Sci , vol.30 , Issue.1 , pp. 48-54
    • Katusic, Z.S.1    d'Uscio, L.V.2    Nath, K.A.3
  • 20
    • 78651125086 scopus 로고
    • The structure of the phenylalanine-hydroxylation cofactor
    • doi: 10.1073/pnas.50.6.1085
    • Kaufman S (1963) The structure of the phenylalanine-hydroxylation cofactor. Proc Natl Acad Sci U S A 50: 1085-1093. doi: 10.1073/ pnas.50.6.1085.
    • (1963) Proc Natl Acad Sci U S A , vol.50 , pp. 1085-1093
    • Kaufman, S.1
  • 22
    • 0018170113 scopus 로고
    • Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria
    • Kaufman S, Berlow S, Summer GK, et al (1978) Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria. N Engl J Med 299 (13): 673-679.
    • (1978) N Engl J Med , vol.299 , Issue.13 , pp. 673-679
    • Kaufman, S.1    Berlow, S.2    Summer, G.K.3
  • 23
    • 0019964391 scopus 로고
    • Use of tetrahydropterins in the treatment of hyperphenylalaninemia due to defective synthesis of tetrahydrobiopterin: Evidence that peripherally administered tetrahydropterins enter the brain
    • Kaufman S, Kapatos G, McInnes RR, Schulman JD, Rizzo WB (1982) Use of tetrahydropterins in the treatment of hyperphenylalaninemia due to defective synthesis of tetrahydrobiopterin: Evidence that peripherally administered tetrahydropterins enter the brain. Pediatrics 70 (3): 376-380.
    • (1982) Pediatrics , vol.70 , Issue.3 , pp. 376-380
    • Kaufman, S.1    Kapatos, G.2    McInnes, R.R.3    Schulman, J.D.4    Rizzo, W.B.5
  • 24
    • 0029068833 scopus 로고
    • Cerebrospinal fluid biopterin and biogenic amine metabolites during oral R-THBP therapy for infantile autism
    • doi: 10.1007/BF02178503
    • Komori H, Matsuishi T, Yamada S, Yamashita Y, Ohtaki E, Kato H (1995) Cerebrospinal fluid biopterin and biogenic amine metabolites during oral R-THBP therapy for infantile autism. J Autism Dev Disord 25 (2): 183-193. doi: 10.1007/BF02178503.
    • (1995) J Autism Dev Disord , vol.25 , Issue.2 , pp. 183-193
    • Komori, H.1    Matsuishi, T.2    Yamada, S.3    Yamashita, Y.4    Ohtaki, E.5    Kato, H.6
  • 25
    • 32044452704 scopus 로고    scopus 로고
    • Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency
    • doi: 10.1016/j.ymgme.2005.09.028
    • Lee NC, Cheng LY, Liu TT, Hsiao KJ, Chiu PC, Niu DM (2006) Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency. Mol Genet Metab 87 (2): 128-134. doi: 10.1016/j.ymgme.2005.09.028.
    • (2006) Mol Genet Metab , vol.87 , Issue.2 , pp. 128-134
    • Lee, N.C.1    Cheng, L.Y.2    Liu, T.T.3    Hsiao, K.J.4    Chiu, P.C.5    Niu, D.M.6
  • 26
    • 40849114590 scopus 로고    scopus 로고
    • Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency
    • doi: 10.1001/archneur.65.3.387
    • Liu KM, Liu TT, Lee NC, Cheng LY, Hsiao KJ, Niu DM (2008) Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency. Arch Neurol 65 (3): 387-392. doi: 10.1001/archneur.65.3.387.
    • (2008) Arch Neurol , vol.65 , Issue.3 , pp. 387-392
    • Liu, K.M.1    Liu, T.T.2    Lee, N.C.3    Cheng, L.Y.4    Hsiao, K.J.5    Niu, D.M.6
  • 27
    • 0022416113 scopus 로고
    • Cranial computerized tomography in dihydropteridine reductase deficiency
    • doi: 10.1007/BF01819291
    • Longhi R, Valsasina R, Butte C, Paccanelli S, Riva E, Giovannini M (1985) Cranial computerized tomography in dihydropteridine reductase deficiency. J Inherit Metab Dis 8 (3): 109-112. doi: 10.1007/BF01819291.
    • (1985) J Inherit Metab Dis , vol.8 , Issue.3 , pp. 109-112
    • Longhi, R.1    Valsasina, R.2    Butte, C.3    Paccanelli, S.4    Riva, E.5    Giovannini, M.6
  • 28
    • 0037022228 scopus 로고    scopus 로고
    • Crystal structure of the stimulatory complex of GTP cyclohydrolase I and its feedback regulatory protein GFRP
    • doi: 10.1073/pnas.022646999
    • Maita N, Okada K, Hatakeyama K, Hakoshima T (2002) Crystal structure of the stimulatory complex of GTP cyclohydrolase I and its feedback regulatory protein GFRP. Proc Natl Acad Sci U S A 99 (3): 1212-1217. doi: 10.1073/pnas.022646999.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , Issue.3 , pp. 1212-1217
    • Maita, N.1    Okada, K.2    Hatakeyama, K.3    Hakoshima, T.4
  • 29
    • 26044449033 scopus 로고    scopus 로고
    • Sepiapterin reductase deficiency: A congenital dopa-responsive motor and cognitive disorder
    • doi: 10.1093/brain/awh603
    • Neville BG, Parascandalo R, Farrugia R, Felice A (2005) Sepiapterin reductase deficiency: A congenital dopa-responsive motor and cognitive disorder. Brain 128 (Pt 10): 2291-2296. doi: 10.1093/brain/awh603.
    • (2005) Brain , vol.128 , Issue.PART 10 , pp. 2291-2296
    • Neville, B.G.1    Parascandalo, R.2    Farrugia, R.3    Felice, A.4
  • 30
    • 0021344054 scopus 로고
    • GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia
    • doi: 10.1007/BF00572762
    • Niederwieser A, Blau N, Wang M, Joller P, Atares 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 (4): 208-214. doi: 10.1007/BF00572762.
    • (1984) Eur J Pediatr , vol.141 , Issue.4 , pp. 208-214
    • Niederwieser, A.1    Blau, N.2    Wang, M.3    Joller, P.4    Atares, M.5    Cardesa-Garcia, J.6
  • 31
    • 37349090471 scopus 로고    scopus 로고
    • A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels
    • doi: 10.1016/j.braindev.2007.05.011
    • Ogawa A, Kanazawa M, Takayanagi M, Kitani Y, Shintaku H, Kohno Y (2008) A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels. Brain Dev 30 (1): 82-85. doi: 10.1016/j.braindev.2007.05.011.
    • (2008) Brain Dev , vol.30 , Issue.1 , pp. 82-85
    • Ogawa, A.1    Kanazawa, M.2    Takayanagi, M.3    Kitani, Y.4    Shintaku, H.5    Kohno, Y.6
  • 32
    • 0017304706 scopus 로고
    • Atypical phenylketonuria with normal dihydropteridine reductase activity
    • Rey F, Blandin-Savoja F, Rey J (1976) Atypical phenylketonuria with normal dihydropteridine reductase activity. N Engl J Med 295 (20): 1138-1139.
    • (1976) N Engl J Med , vol.295 , Issue.20 , pp. 1138-1139
    • Rey, F.1    Blandin-Savoja, F.2    Rey, J.3
  • 33
    • 0017823619 scopus 로고
    • Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis
    • Schaub J, Daumling S, Curtius HC (1978) Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis. Arch Dis Child 53 (8): 674-676.
    • (1978) Arch Dis Child , vol.53 , Issue.8 , pp. 674-676
    • Schaub, J.1    Daumling, S.2    Curtius, H.C.3
  • 34
    • 0017317081 scopus 로고
    • Preparation and characterisation of pure 5,6,7,8-tetrahydro-L- neopterine and 5,6,7,8-tetrahydro-D-monapterine (author's transl)
    • doi: 10.1002/hlca.19760590128
    • Schircks B, Bieri JH, Viscontini M (1976) Preparation and characterisation of pure 5,6,7,8-tetrahydro-L-neopterine and 5,6,7,8-tetrahydro-D-monapterine (author's transl). Helv Chim Acta 59 (1): 248-252. doi: 10.1002/hlca.19760590128.
    • (1976) Helv Chim Acta , vol.59 , Issue.1 , pp. 248-252
    • Schircks, B.1    Bieri, J.H.2    Viscontini, M.3
  • 35
    • 34447536457 scopus 로고    scopus 로고
    • Mechanisms for the role of tetrahydrobiopterin in endothelial function and vascular disease
    • Schmidt TS, Alp NJ (2007) Mechanisms for the role of tetrahydrobiopterin in endothelial function and vascular disease. Clin Sci (Lond) 113 (2): 47-63.
    • (2007) Clin Sci (Lond) , vol.113 , Issue.2 , pp. 47-63
    • Schmidt, T.S.1    Alp, N.J.2
  • 36
    • 67349217824 scopus 로고
    • Die Anfange der Pterinchemie
    • In: Pfleiderer W, Taylor, E.D., eds. Oxford: Pergamon Press
    • Schopf C (1964) Die Anfange der Pterinchemie. In: Pfleiderer W, Taylor, E.D., eds. Pteridine Chemistry. Oxford: Pergamon Press, 3-14.
    • (1964) Pteridine Chemistry , pp. 3-14
    • Schopf, C.1
  • 37
    • 0016855406 scopus 로고
    • New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction
    • doi: 10.1016/S0140-6736(75)92498-8
    • Smith I, Clayton BE, Wolff OH (1975) New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction. Lancet 305 (7916): 1108-1111. doi: 10.1016/ S0140-6736(75)92498-8.
    • (1975) Lancet , vol.305 , Issue.7916 , pp. 1108-1111
    • Smith, I.1    Clayton, B.E.2    Wolff, O.H.3
  • 38
    • 0021800607 scopus 로고
    • Clinical role of pteridine therapy in tetrahydrobiopterin deficiency
    • doi: 10.1007/BF01800658
    • Smith I, Hyland K, Kendall B (1985) Clinical role of pteridine therapy in tetrahydrobiopterin deficiency. J Inherit Metab Dis 8 (Supplement 1): 39-45. doi: 10.1007/BF01800658.
    • (1985) J Inherit Metab Dis , vol.8 , Issue.SUPPL. 1 , pp. 39-45
    • Smith, I.1    Hyland, K.2    Kendall, B.3
  • 39
    • 0029879439 scopus 로고    scopus 로고
    • Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin
    • doi: 10.1007/BF01799437
    • Spada M, Ferraris S, Ferrero GB (1996) Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. J Inherit Metab Dis 19 (2): 231-233. doi: 10.1007/BF01799437.
    • (1996) J Inherit Metab Dis , vol.19 , Issue.2 , pp. 231-233
    • Spada, M.1    Ferraris, S.2    Ferrero, G.B.3
  • 40
    • 33748367238 scopus 로고    scopus 로고
    • Mutations in the BH 4 -metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase
    • doi: 10.1002/humu.20366
    • Thony B, Blau N (2006) Mutations in the BH 4 -metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat 27 (9): 870-878. doi: 10.1002/humu.20366.
    • (2006) Hum Mutat , vol.27 , Issue.9 , pp. 870-878
    • Thony, B.1    Blau, N.2
  • 41
    • 0031595628 scopus 로고    scopus 로고
    • Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia
    • doi: 10.1007/s004390050800
    • Thöny B, Neuheiser F, Kierat L, et al (1998) Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. Hum Genet 103 (2): 162-167. doi: 10.1007/ s004390050800.
    • (1998) Hum Genet , vol.103 , Issue.2 , pp. 162-167
    • Thöny, B.1    Neuheiser, F.2    Kierat, L.3
  • 42
    • 58249097083 scopus 로고    scopus 로고
    • Glyceryl ether monooxygenase resembles aromatic amino acid hydroxylases in metal ion and tetrahydrobiopterin dependence
    • Watschinger K, Keller MA, Hermetter A, Golderer G, Werner-Felmayer G, Werner ER (2009) Glyceryl ether monooxygenase resembles aromatic amino acid hydroxylases in metal ion and tetrahydrobiopterin dependence. Biol Chem 390 (1): 3-10.
    • (2009) Biol Chem , vol.390 , Issue.1 , pp. 3-10
    • Watschinger, K.1    Keller, M.A.2    Hermetter, A.3    Golderer, G.4    Werner-Felmayer, G.5    Werner, E.R.6
  • 43
    • 0024565246 scopus 로고
    • Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy
    • Woody RC, Brewster MA, Glasier C (1989) Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy. Neurology 39 (5): 673-675.
    • (1989) Neurology , vol.39 , Issue.5 , pp. 673-675
    • Woody, R.C.1    Brewster, M.A.2    Glasier, C.3
  • 44
    • 33645466943 scopus 로고    scopus 로고
    • A murine model for human sepiapterin-reductase deficiency
    • doi: 10.1086/501372
    • Yang S, Lee YJ, Kim JM, et al (2006) A murine model for human sepiapterin-reductase deficiency. Am J Hum Genet 78 (4): 575-587. doi: 10.1086/501372.
    • (2006) Am J Hum Genet , vol.78 , Issue.4 , pp. 575-587
    • Yang, S.1    Lee, Y.J.2    Kim, J.M.3
  • 45
    • 0036354960 scopus 로고    scopus 로고
    • Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency
    • doi: 10.1006/mgme.2001.3273
    • Zorzi G, Redweik U, Trippe H, Penzien JM, Thony B, Blau N (2002) Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency. Mol Genet Metab 75 (2): 174-177. doi: 10.1006/mgme.2001.3273.
    • (2002) Mol Genet Metab , vol.75 , Issue.2 , pp. 174-177
    • Zorzi, G.1    Redweik, U.2    Trippe, H.3    Penzien, J.M.4    Thony, B.5    Blau, N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.