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Volumn 32, Issue SUPPL. 1, 2009, Pages

Zellweger syndrome with unusual findings: Non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails

Author keywords

[No Author keywords available]

Indexed keywords

LIPOPROTEIN; MEMBRANE PROTEIN; PEX3 PROTEIN, HUMAN;

EID: 84881077700     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-9010-0     Document Type: Article
Times cited : (18)

References (12)
  • 2
    • 0033804750 scopus 로고    scopus 로고
    • PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G
    • Ghaedi K, Honsho M, Shimozawa N et al (2000) PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G. Am J Hum Genet 67:976-981
    • (2000) Am J Hum Genet , vol.67 , pp. 976-981
    • Ghaedi, K.1    Honsho, M.2    Shimozawa, N.3
  • 3
    • 0017264497 scopus 로고
    • Studies of malformation syndromes of man XIB: The cerebro-hepato-renal syndrome of Zellweger: Comparative pathology
    • Gilchrist KW, Gilbert EF, Goldfarb Set al (1976) Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of Zellweger: comparative pathology. Eur J Pediatr 121:99-118
    • (1976) Eur J Pediatr , vol.121 , pp. 99-118
    • Gilchrist, K.W.1    Gilbert, E.F.2    Goldfarb, S.3
  • 5
    • 0033794897 scopus 로고    scopus 로고
    • Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G
    • Muntau AC, Mayerhofer PU, Paton BC et al (2000) Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G. Am J Hum Genet 67:967-975
    • (2000) Am J Hum Genet , vol.67 , pp. 967-975
    • Muntau, A.C.1    Mayerhofer, P.U.2    Paton, B.C.3
  • 6
    • 0028840636 scopus 로고
    • Peroxisomal assembly defects: Clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group
    • Poulos A, Christodoulou J, Chow CW et al (1995) Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group. J Pediatr 127:596-599
    • (1995) J Pediatr , vol.127 , pp. 596-599
    • Poulos, A.1    Christodoulou, J.2    Chow, C.W.3
  • 7
    • 75149145823 scopus 로고    scopus 로고
    • Cutaneous structures
    • Stevenson RE, Hall JG, eds; Sulik KK, Gilbert-Barness E, Buchahan KK, assoc. eds. 2nd edn. Oxford University Press, New York
    • Prendville JS (2006) Cutaneous structures. In: Stevenson RE, Hall JG, eds; Sulik KK, Gilbert-Barness E, Buchahan KK, assoc. eds. Human malformations and related anomalies, 2nd edn. Oxford University Press, New York, 1336- 1337
    • (2006) Human Malformations and Related Anomalies , pp. 1336-1337
    • Prendville, J.S.1
  • 10
    • 0031734581 scopus 로고    scopus 로고
    • Fetomaternal haemorrhage and prenatal intracranial bleeding: Two more causes of blueberry muffin baby
    • DOI 10.1007/s004310050970
    • Smets K, Van Aken S (1998) Fetomaternal hemorrhage and prenatal intracranial bleeding: two more causes of blueberry muffin baby. Eur J Pediatr 157:932-934 (Pubitemid 28506556)
    • (1998) European Journal of Pediatrics , vol.157 , Issue.11 , pp. 932-934
    • Smets, K.1    Van Aken, S.2
  • 11
    • 0033289849 scopus 로고    scopus 로고
    • Nonimmune hydrops fetalis
    • Sosa ME (1999) Nonimmune hydrops fetalis. J Perinat Neonatal Nurs 13:33-44
    • (1999) J Perinat Neonatal Nurs , vol.13 , pp. 33-44
    • Sosa, M.E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.