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Volumn 32, Issue SUPPL. 1, 2009, Pages

Maternal tetrahydrobiopterin deficiency: The course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

5,6,7,8-TETRAHYDROBIOPTERIN; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE; BIOPTERIN; DRUG DERIVATIVE; LYASE; TETRAHYDROBIOPTERIN;

EID: 84881046093     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1073-4     Document Type: Article
Times cited : (7)

References (23)
  • 1
    • 38849137253 scopus 로고    scopus 로고
    • Nomenclature and laboratory diagnosis of tetrahydrobiopterin deficiencies
    • Blau N, ed. Heilbronn: SPS Verlagsgesellschaft
    • Blau N (2006) Nomenclature and laboratory diagnosis of tetrahydrobiopterin deficiencies. In: Blau N, ed. PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin. Heilbronn: SPS Verlagsgesellschaft, 555-567.
    • (2006) PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin , pp. 555-567
    • Blau, N.1
  • 2
    • 33749489646 scopus 로고    scopus 로고
    • Disorders of phenylalanine and tetrahydrobiopterin
    • Blau N, Hoffmann G, Leonard J, Clarke J, eds. Berlin, Heidelberg, New York: Springer
    • Blau N, Burgard P (2005) Disorders of phenylalanine and tetrahydrobiopterin. In: Blau N, Hoffmann G, Leonard J, Clarke J, eds. Physician's Guide to the Treatment and Follow-up of Metabolic Diseases. Berlin, Heidelberg, New York: Springer, 25-34.
    • (2005) Physician's Guide to the Treatment and Follow-up of Metabolic Diseases , pp. 25-34
    • Blau, N.1    Burgard, P.2
  • 3
    • 0002920403 scopus 로고    scopus 로고
    • Disorders of phenylalanine and tetrahydrobiopterin metabolism
    • Blau N, Duran M, Blascovics ME, Gibson KM, eds. Berlin, Heidelberg, New York: Springer
    • Blau N, Bonafe L, Blascovics ME (2003) Disorders of phenylalanine and tetrahydrobiopterin metabolism. In: Blau N, Duran M, Blascovics ME, Gibson KM, eds. Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. Berlin, Heidelberg, New York: Springer, 89-106.
    • (2003) Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases , pp. 89-106
    • Blau, N.1    Bonafe, L.2    Blascovics, M.E.3
  • 4
    • 0030065606 scopus 로고    scopus 로고
    • Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly
    • DOI 10.1038/ng0196-94
    • Brunelli S, Faiella A, Capra V, et al (1996) Germline mutation in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 12: 94-96. doi:10.1038/ng0196-94. (Pubitemid 26011327)
    • (1996) Nature Genetics , vol.12 , Issue.1 , pp. 94-96
    • Brunelli, S.1    Faiella, A.2    Capra, V.3    Nigro, V.4    Simeone, A.5    Cama, A.6    Boncinelli, E.7
  • 5
    • 38849134201 scopus 로고    scopus 로고
    • Follow-up and outcome of tetrahydrobiopterin deficiencies
    • Blau N, ed. Heilbronn: SPS Verlagsgesellschaft
    • Dhondt J-L (2006) Follow-up and outcome of tetrahydrobiopterin deficiencies. In: Blau N, ed. PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin. Heilbronn: SPS Verlagsgesellschaft, 652-677.
    • (2006) PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin , pp. 652-677
    • Dhondt, J.-L.1
  • 7
    • 84897582164 scopus 로고    scopus 로고
    • Epilepsy
    • Tortori-Donati P, Rossi A, eds. Berlin, Heidelberg, New York: Springer
    • Guerrini R, Canapicchi R, Montanaro D (2005) Epilepsy. In: Tortori-Donati P, Rossi A, eds. Pediatric Neuroradiology Brain. Berlin, Heidelberg, New York: Springer, 995-1047.
    • (2005) Pediatric Neuroradiology Brain , pp. 995-1047
    • Guerrini, R.1    Canapicchi, R.2    Montanaro, D.3
  • 8
    • 0031985411 scopus 로고    scopus 로고
    • Pregnancy in Parkinson's disease: A review of the literature and a case report
    • DOI 10.1002/mds.870130110
    • Hagell P, Odin P, Vinge E (1998) Pregnancy in Parkinson's disease: a review of the literature and a case report. Mov Disord 13: 34-38. doi:10.1002/mds.870130110. (Pubitemid 28029849)
    • (1998) Movement Disorders , vol.13 , Issue.1 , pp. 34-38
    • Hagell, P.1    Odin, P.2    Vinge, E.3
  • 9
    • 84897580237 scopus 로고    scopus 로고
    • Tetrahydrobiopterin deficiencies with hyperphenylalaninemia
    • Blau N, ed. Heilbronn: SPS Verlagsgesellschaft
    • Hyland K (2006) Tetrahydrobiopterin deficiencies with hyperphenylalaninemia. In: Blau N, ed. PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin, Heilbronn: SPS Verlagsgesellschaft, 568-577.
    • (2006) PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin , pp. 568-577
    • Hyland, K.1
  • 13
    • 58249093611 scopus 로고    scopus 로고
    • Maternal phenylketonuria and tetrahydrobiopterin
    • doi:10.1542/peds.2008-2783
    • Koch R (2008) Maternal phenylketonuria and tetrahydrobiopterin. Pediatrics 122(6): 1367-1368. doi:10.1542/peds.2008-2783.
    • (2008) Pediatrics , vol.122 , Issue.6 , pp. 1367-1368
    • Koch, R.1
  • 14
    • 28844479023 scopus 로고    scopus 로고
    • Tetrahydrobiopterin and maternal PKU
    • doi:10.1016/j.ymgme.2005.09.004
    • Koch R, Moseley K, Guttler F (2005) Tetrahydrobiopterin and maternal PKU. Mol Genet Metab 86(Supplement 1): 139-141. doi:10.1016/j.ymgme.2005.09.004.
    • (2005) Mol Genet Metab , vol.86 , Issue.SUPPL. 1 , pp. 139-141
    • Koch, R.1    Moseley, K.2    Guttler, F.3
  • 15
    • 33745075961 scopus 로고    scopus 로고
    • Pregnancy issues in inherited metabolic disorders
    • doi:10.1007/s10545-005-0252-1
    • Lee PJ (2006) Pregnancy issues in inherited metabolic disorders. J Inherit Metab Dis 29: 311-316. doi:10.1007/s10545-005-0252-1.
    • (2006) J Inherit Metab Dis , vol.29 , pp. 311-316
    • Lee, P.J.1
  • 18
    • 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, PII S0387760407001453
    • 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: 82-85. doi:10.1016/j.braindev.2007.05. 011. (Pubitemid 350296750)
    • (2008) Brain and Development , 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
  • 20
  • 21
    • 34547137753 scopus 로고    scopus 로고
    • Brain malformations
    • Tortori-Donati P, Rossi A, eds. Berlin, Heidelberg, New York: Springer
    • Tortori-Donati P, Rossi A, Biancheri A (2005) Brain malformations. In: Tortori-Donati P, Rossi A, eds. Pediatric Neuroradiology Brain. Berlin, Heidelberg, New York: Springer, 71-198.
    • (2005) Pediatric Neuroradiology Brain , pp. 71-198
    • Tortori-Donati, P.1    Rossi, A.2    Biancheri, A.3
  • 22
    • 0034034321 scopus 로고    scopus 로고
    • Inborn errors of metabolism and pregnancy
    • doi:10.1023/A:1005679928521
    • Walter JH (2000) Inborn errors of metabolism and pregnancy. J Inherit Metab Dis 23: 229-236. doi:10.1023/A:1005679928521.
    • (2000) J Inherit Metab Dis , vol.23 , pp. 229-236
    • Walter, J.H.1
  • 23
    • 33645656075 scopus 로고    scopus 로고
    • Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency
    • doi:10.1007/s10545-006-0080-y
    • Wang L, Yu W-M, He C, et al (2006) Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency. J Inherit Metab Dis 29: 127-134. doi:10.1007/s10545-006- 0080-y.
    • (2006) J Inherit Metab Dis , vol.29 , pp. 127-134
    • Wang, L.1    Yu, W.-M.2    He, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.