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Volumn 19, Issue 3, 1999, Pages 252-256

Prenatal diagnosis of mucolipidosis II. Electron microscopy and biochemical evaluation

Author keywords

Electron microscopy; I cell disease; Mucolipidosis; Prenatal diagnosis

Indexed keywords

LYSOSOME ENZYME;

EID: 0033009181     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199903)19:3<252::AID-PD532>3.0.CO;2-D     Document Type: Article
Times cited : (15)

References (11)
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  • 3
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  • 4
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    • Variability of fibroblasts lysosomal acid hydrolases with reference to the detection of enzyme deficiencies
    • Carey, W.F., Pollard, A.C. (1977). Variability of fibroblasts lysosomal acid hydrolases with reference to the detection of enzyme deficiencies, Aust. J. Exp. Biol. Med. Sci., 55, 245-252.
    • (1977) Aust. J. Exp. Biol. Med. Sci. , vol.55 , pp. 245-252
    • Carey, W.F.1    Pollard, A.C.2
  • 5
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    • I-cell disease and pseudo-hurler polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization
    • Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. (Eds). New York: McGraw-Hill
    • Kornfeld, S., Sly, W.S. (1995). I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. In: Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. (Eds). The Metabolic and Molecular Bases of Inhertited Disease, 7th edition, New York: McGraw-Hill, 2495-2508.
    • (1995) The Metabolic and Molecular Bases of Inhertited Disease, 7th Edition , pp. 2495-2508
    • Kornfeld, S.1    Sly, W.S.2
  • 6
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    • Histopathological investigation of prenatal tissue samples (excluding skin)
    • Reed, G.B., Claireaux, F., Cockburn, F. (Eds). London: Chapman & Hall
    • Lake, B.D. (1995). Histopathological investigation of prenatal tissue samples (excluding skin). In: Reed, G.B., Claireaux, F., Cockburn, F. (Eds). Diseases of the Fetus and Newborn, 2nd edition, London: Chapman & Hall, 1089-1097.
    • (1995) Diseases of the Fetus and Newborn, 2nd Edition , pp. 1089-1097
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  • 7
    • 0024323348 scopus 로고
    • Prenatal diagnosis of I-cell disease in the first and second trimesters
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  • 8
    • 0021736793 scopus 로고
    • First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy
    • Poenaru, L., Castelnau, L., Dumez, Y., Thepot, F. (1984). First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy, Am. J. Hum. Genet., 36, 1395-1397.
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    • Poenaru, L.1    Castelnau, L.2    Dumez, Y.3    Thepot, F.4
  • 9
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  • 10
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    • Reitman, M.L., Varki, A., Kornfeld, S. (1981). Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5′-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminyl-phosphotransferase activity, J. Clin. Invest., 67, 1574-1579.
    • (1981) J. Clin. Invest. , vol.67 , pp. 1574-1579
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.