메뉴 건너뛰기




Volumn 119 A, Issue 3, 2003, Pages 352-355

A new autosomal recessive syndrome with Zellweger-like manifestations

Author keywords

Failure to thrive; Mental retardation; Mitochondria; Peroxisome; Respiratory chain; Zellweger syndrome

Indexed keywords

ADRENOLEUKODYSTROPHY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOGENESIS; CASE REPORT; CHILD; CRANIOFACIAL MALFORMATION; FAILURE TO THRIVE; FATTY ACID OXIDATION; FEMALE; HUMAN; MENTAL DEFICIENCY; MICROGNATHIA; MITOCHONDRIAL MEMBRANE; PEROXISOME; PHENOTYPE; PRIORITY JOURNAL; REFSUM DISEASE; ZELLWEGER SYNDROME;

EID: 0041821622     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20124     Document Type: Article
Times cited : (2)

References (9)
  • 6
    • 0032729864 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in disorders of peroxisome biogenesis
    • Moser HW. 1999. Genotype-phenotype correlations in disorders of peroxisome biogenesis. Mol Genet Metab 68:316-327.
    • (1999) Mol Genet Metab , vol.68 , pp. 316-327
    • Moser, H.W.1
  • 7
    • 0032932397 scopus 로고    scopus 로고
    • Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls
    • Moser AB, Kreiter N, Bezman L, Lu S, Raymond GV, Naidu S, Moser HW. 1999. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol 45:100-110.
    • (1999) Ann Neurol , vol.45 , pp. 100-110
    • Moser, A.B.1    Kreiter, N.2    Bezman, L.3    Lu, S.4    Raymond, G.V.5    Naidu, S.6    Moser, H.W.7
  • 8
    • 0025011743 scopus 로고
    • Two siblings with phenotypes mimicking peroxisomal disorders but with discordant biochemical findings
    • Pietrzyk JJ, Turowska-Heydel D, Klimek M, Kaczmarski F, Kaluza J. 1990. Two siblings with phenotypes mimicking peroxisomal disorders but with discordant biochemical findings. Clin Pediatr (Phila) 29:479-484.
    • (1990) Clin Pediatr (Phila) , vol.29 , pp. 479-484
    • Pietrzyk, J.J.1    Turowska-Heydel, D.2    Klimek, M.3    Kaczmarski, F.4    Kaluza, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.