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Volumn 112, Issue 2, 2014, Pages 85-86

National Institutes of Health (NIH) review of evidence in phenylalanine hydroxylase deficiency (phenylketonuria) and recommendations/guidelines for therapy from the American College of Medical Genetics (ACMG) and Genetics Metabolic Dietitians International (GMDI)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; SAPROPTERIN; BIOPTERIN;

EID: 84901600919     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.03.005     Document Type: Note
Times cited : (8)

References (7)
  • 1
    • 84901631593 scopus 로고    scopus 로고
    • Phenylketonuria scientific review conference: state of the science and future research needs
    • (this issue)
    • Camp K.M., Parisi M.A. Phenylketonuria scientific review conference: state of the science and future research needs. Mol. Genet. Metab. 2014, 112:87-122. (this issue).
    • (2014) Mol. Genet. Metab. , vol.112 , pp. 87-122
    • Camp, K.M.1    Parisi, M.A.2
  • 4
  • 5
    • 72249115976 scopus 로고    scopus 로고
    • Executive function in early-treated phenylketonuria: profile and underlying mechanisms
    • Christ S.E., Huijbregts S.C., de Sonneville L.M., White D.A. Executive function in early-treated phenylketonuria: profile and underlying mechanisms. Mol. Genet. Metab. 2010, 99(Suppl. 1):S22-S32.
    • (2010) Mol. Genet. Metab. , vol.99 , Issue.SUPPL. 1
    • Christ, S.E.1    Huijbregts, S.C.2    de Sonneville, L.M.3    White, D.A.4
  • 6
    • 0034790129 scopus 로고    scopus 로고
    • National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000
    • National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000. Pediatrics 2001, 108:972-982.
    • (2001) Pediatrics , vol.108 , pp. 972-982


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.