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Volumn 32, Issue 12, 2012, Pages 1139-1142

Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOSAMINOGLYCAN;

EID: 84869990468     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.3972     Document Type: Article
Times cited : (33)

References (11)
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    • (2009) Am J Med Genet A , vol.149 A , pp. 844-851
    • Bellini, C.1    Hennekam, R.C.2    Fulcheri, E.3
  • 2
    • 0030938952 scopus 로고    scopus 로고
    • Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease
    • Kattner E, Schafer A, Harzer K. Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. Eur J Pediatr 1997; 156:292-5.
    • (1997) Eur J Pediatr , vol.156 , pp. 292-295
    • Kattner, E.1    Schafer, A.2    Harzer, K.3
  • 3
    • 0036303882 scopus 로고    scopus 로고
    • Lysosomal disorders
    • Wraith JE. Lysosomal disorders. Semin Neonatol 2002;7:75-83.
    • (2002) Semin Neonatol , vol.7 , pp. 75-83
    • Wraith, J.E.1
  • 4
    • 65349115304 scopus 로고    scopus 로고
    • Lysosomal storage disorders in the newborn
    • Staretz-Chacham O, Lang TC, LaMarca ME, et al. Lysosomal storage disorders in the newborn. Pediatrics 2009;123:1191-207.
    • (2009) Pediatrics , vol.123 , pp. 1191-1207
    • Staretz-Chacham, O.1    Lang, T.C.2    LaMarca, M.E.3
  • 5
    • 0017713962 scopus 로고
    • A method for the determination of amniotic-fluid glycosaminoglycans and its application to the prenatal diagnosis of Hurler and Sanfilippo diseases
    • Whiteman P, Henderson H. A method for the determination of amniotic-fluid glycosaminoglycans and its application to the prenatal diagnosis of Hurler and Sanfilippo diseases. Clin Chim Acta 1977;79:99-105.
    • (1977) Clin Chim Acta , vol.79 , pp. 99-105
    • Whiteman, P.1    Henderson, H.2
  • 6
    • 84886636844 scopus 로고
    • Variations in the phenotypic expression of beta-glucuronidase deficiency
    • Beaudet AL, Differrante NM, Ferry GD, et al. Variations in the phenotypic expression of beta-glucuronidase deficiency. J Pediatr 1975;86:388-94.
    • (1975) J Pediatr , vol.86 , pp. 388-394
    • Beaudet, A.L.1    Differrante, N.M.2    Ferry, G.D.3
  • 7
    • 0017174536 scopus 로고
    • Differentiation of beta-glucocerebrosidase form beta-glucosidase in human tissues using sodium taurocholate
    • Peters SP, Coyle P, Glew RH. Differentiation of beta-glucocerebrosidase form beta-glucosidase in human tissues using sodium taurocholate. Arch Biochem Biophys 1976;175:569-72.
    • (1976) Arch Biochem Biophys , vol.175 , pp. 569-572
    • Peters, S.P.1    Coyle, P.2    Glew, R.H.3
  • 9
    • 0021219497 scopus 로고
    • Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-b-D-glucopyranoside for the diagnosis of GM2 gangliosidoses in leukocytes
    • Inui K, Wenger DA. Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-b-D-glucopyranoside for the diagnosis of GM2 gangliosidoses in leukocytes. Clin Genet 1984;26:318-21.
    • (1984) Clin Genet , vol.26 , pp. 318-321
    • Inui, K.1    Wenger, D.A.2
  • 10
    • 4243125333 scopus 로고    scopus 로고
    • Investigation of lysosomal storage diseases in nonimmune hydrops fetalis
    • Burin MG, Scholz AP, Gus R, et al. Investigation of lysosomal storage diseases in nonimmune hydrops fetalis. Prenat Diagn 2004;24:653-57.
    • (2004) Prenat Diagn , vol.24 , pp. 653-657
    • Burin, M.G.1    Scholz, A.P.2    Gus, R.3
  • 11
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    • Lysosomal storage diseases in non-immune hydrops fetalis pregnancies
    • Kooper AJA, Janssens PMW, Akosua NJA, et al. Lysosomal storage diseases in non-immune hydrops fetalis pregnancies. Clin Chim Acta 2006;371:176-82.
    • (2006) Clin Chim Acta , vol.371 , pp. 176-182
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.