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Volumn 29, Issue 1, 2007, Pages 51-54

D-bifunctional protein deficiency associated with drug resistant infantile spasms

Author keywords

HSD17B4 gene; Infantile spasms; Peroxisomal D bifunctional protein

Indexed keywords

CLOBAZAM; DIAZEPAM DERIVATIVE; LAMOTRIGINE; PYRIDOXINE; TRINUCLEOTIDE; VALPROIC ACID; VIGABATRIN;

EID: 33846109859     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2006.06.004     Document Type: Article
Times cited : (10)

References (7)
  • 1
    • 4744371532 scopus 로고    scopus 로고
    • Peroxisomes, lipid metabolism, and peroxisomal disorders
    • Wanders R.J. Peroxisomes, lipid metabolism, and peroxisomal disorders. Mol Genet Metab 83 (2004) 16-27
    • (2004) Mol Genet Metab , vol.83 , pp. 16-27
    • Wanders, R.J.1
  • 2
    • 0034570029 scopus 로고    scopus 로고
    • Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group
    • Paton B.C., and Pollard A.N. Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group. Cell Biochem Biophys 32 Spring (2000) 247-251
    • (2000) Cell Biochem Biophys , vol.32 , Issue.Spring , pp. 247-251
    • Paton, B.C.1    Pollard, A.N.2
  • 3
    • 33846055346 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man (OMIM): http://www.ncbi.nlm.nih.gov./Omim/ Center for Medical Genetics, Johns Hopkins University, Baltimore, MD, and the national Centre for Biotechnology Information, National Library of Medicine, Bethesda, MD: MIM #*601860 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4.
  • 6
    • 0029146941 scopus 로고
    • Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies
    • Watkin P.A., McGuinness M.C., Raymond G.V., Hicks B.A., Sisk J.M., Moser A.B., et al. Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies. Ann Neurol 38 (1995) 472-477
    • (1995) Ann Neurol , vol.38 , pp. 472-477
    • Watkin, P.A.1    McGuinness, M.C.2    Raymond, G.V.3    Hicks, B.A.4    Sisk, J.M.5    Moser, A.B.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.