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Volumn 16, Issue 5, 1996, Pages 400-402

Neonatal Mucolipidosis II (I-Cell Disease) with Dysharmonic Epiphyseal Ossification and Butterfly Vertebral Body

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; FEMALE; HETEROTOPIC OSSIFICATION; HUMAN; MUCOLIPIDOSIS; NEWBORN; PATHOPHYSIOLOGY; RADIOGRAPHY; REVIEW; VERTEBRA;

EID: 0030227147     PISSN: 07438346     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (16)
  • 2
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    • Multiple molecular forms of lysosomal enzymes in mucolipidosis II
    • Farrell DF, MacMartin MP. Multiple molecular forms of lysosomal enzymes in mucolipidosis II. Hum Genet 1981;58:317-21.
    • (1981) Hum Genet , vol.58 , pp. 317-321
    • Farrell, D.F.1    MacMartin, M.P.2
  • 3
    • 0026322285 scopus 로고
    • An autopsy case of I-cell disease: Ultrastructural and biochemical analyses
    • Kitagawa H, Tok Y, Morimoto T, et al. An autopsy case of I-cell disease: ultrastructural and biochemical analyses. Am J Clin Pathol 1991;96: 262-6.
    • (1991) Am J Clin Pathol , vol.96 , pp. 262-266
    • Kitagawa, H.1    Tok, Y.2    Morimoto, T.3
  • 4
    • 0020558315 scopus 로고
    • Mucolipidosis II: The clinical, radiological and biochemical features in three cases
    • Whelan DT, Chang PL, Cockshott PW. Mucolipidosis II: the clinical, radiological and biochemical features in three cases. Clin Genet 1983;24: 90-6.
    • (1983) Clin Genet , vol.24 , pp. 90-96
    • Whelan, D.T.1    Chang, P.L.2    Cockshott, P.W.3
  • 5
    • 0018833103 scopus 로고
    • Neonatal mucolipidosis II (I-cell disease): Clinical, radiological and biochemical studies in a case
    • Cipolloni C, Boldrini A, Donti E, Maiorana A, Coppa GV. Neonatal mucolipidosis II (I-cell disease): clinical, radiological and biochemical studies in a case. Helv Paediatr Acta 1980;35:85-95.
    • (1980) Helv Paediatr Acta , vol.35 , pp. 85-95
    • Cipolloni, C.1    Boldrini, A.2    Donti, E.3    Maiorana, A.4    Coppa, G.V.5
  • 6
    • 0026550685 scopus 로고
    • Bone changes of mucolipidosis II at different ages: Postmortem study of three cases
    • Pazzaglia UE, Beluffi G, Castello A, Coci A, Zatti G. Bone changes of mucolipidosis II at different ages: postmortem study of three cases. Clin Orthop 1992;276:283-90.
    • (1992) Clin Orthop , vol.276 , pp. 283-290
    • Pazzaglia, U.E.1    Beluffi, G.2    Castello, A.3    Coci, A.4    Zatti, G.5
  • 7
    • 0019952872 scopus 로고
    • Mucolipidosis II: Unusual presentation with a congenital angulated fracture
    • Michels W, Dutton RV, Caskey CT. Mucolipidosis II: unusual presentation with a congenital angulated fracture. Clin Genet 1982;21:225-7.
    • (1982) Clin Genet , vol.21 , pp. 225-227
    • Michels, W.1    Dutton, R.V.2    Caskey, C.T.3
  • 9
    • 0017646318 scopus 로고
    • Neonatal mucolipidosis II (I-cell disease): Clinical and radiologic features in three cases
    • Patriquin HB, Kaplan P, Kind HP, Giedion A. Neonatal mucolipidosis II (I-cell disease): clinical and radiologic features in three cases. AJR Am J Roentgenol 1977;129:37-43.
    • (1977) AJR Am J Roentgenol , vol.129 , pp. 37-43
    • Patriquin, H.B.1    Kaplan, P.2    Kind, H.P.3    Giedion, A.4
  • 12
    • 0024384338 scopus 로고
    • Mucolipidosis II: Correlation between radiological features and histopathology of the bones
    • Pazzaglia UE, Beluffi G, Campbell JB, et al. Mucolipidosis II: correlation between radiological features and histopathology of the bones. Pediatr Radiol 1989;19:406-13.
    • (1989) Pediatr Radiol , vol.19 , pp. 406-413
    • Pazzaglia, U.E.1    Beluffi, G.2    Campbell, J.B.3
  • 13
    • 0024395690 scopus 로고
    • Neonatal mucolipidosis II: The spontaneous evolution of early bone lesions and the effect of vitamin D treatment - Report of two cases
    • Pazzaglia UE, Beluffi G, Danesino Q Frediani PV, Pagani G, Zatti G. Neonatal mucolipidosis II: the spontaneous evolution of early bone lesions and the effect of vitamin D treatment - report of two cases. Pediatr Radiol 1989;20:80-4.
    • (1989) Pediatr Radiol , vol.20 , pp. 80-84
    • Pazzaglia, U.E.1    Beluffi, G.2    Danesino, Q.3    Frediani, P.V.4    Pagani, G.5    Zatti, G.6
  • 16
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    • 1 gangliosidosis: Possible association with microscopic bone marrow osteoblastosis
    • 1 gangliosidosis: possible association with microscopic bone marrow osteoblastosis. J Pediatr 1990;117:758-60.
    • (1990) J Pediatr , vol.117 , pp. 758-760
    • Mogilner, B.M.1    Barak, Y.2    Amitay, M.3    Zlotogora, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.