메뉴 건너뛰기




Volumn 163, Issue 10, 1998, Pages 711-714

Early diagnosis of Hurler's syndrome with the aid of the identification of the characteristic gibbus deformity

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; EARLY DIAGNOSIS; FEMALE; HUMAN; HURLER SYNDROME; INFANT; KYPHOSIS; THORACOLUMBAR SPINE;

EID: 3543048804     PISSN: 00264075     EISSN: None     Source Type: Journal    
DOI: 10.1093/milmed/163.10.711     Document Type: Article
Times cited : (13)

References (18)
  • 1
    • 0015242776 scopus 로고
    • Relative frequency of the Hurler and Hunter syndromes
    • Lowry RB, Renwlck DHG: Relative frequency of the Hurler and Hunter syndromes. N Engl J Med 1971; 284: 221-2.
    • (1971) N Engl J Med , vol.284 , pp. 221-222
    • Lowry, R.B.1    Renwlck, D.H.G.2
  • 3
    • 0026603608 scopus 로고
    • Mucopolysaccharidosis type I (Hurler syndrome): Linkage disequilibrium indicates the presence of a major allele
    • Scott HS, Nelson PV, Cooper A, Wraith JE, Hopwood JJ, Morris CP: Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele. Hum Genet 1992: 88: 701-2.
    • (1992) Hum Genet , vol.88 , pp. 701-702
    • Scott, H.S.1    Nelson, P.V.2    Cooper, A.3    Wraith, J.E.4    Hopwood, J.J.5    Morris, C.P.6
  • 4
    • 0027370562 scopus 로고
    • Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype
    • Hopwood JJ, Vellodi A, Scott HS, et al: Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype. J Inherited Metab Dis 1993; 16: 1024-33.
    • (1993) J Inherited Metab Dis , vol.16 , pp. 1024-1033
    • Hopwood, J.J.1    Vellodi, A.2    Scott, H.S.3
  • 5
    • 0000820862 scopus 로고
    • The mucopolysaccharidoses
    • Edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York, McGraw-Hill
    • Neufeld EF, Muenzer J: The mucopolysaccharidoses. In The Metabolic Basis of Inherited Disease, Ed 6, pp 1565-87. Edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York, McGraw-Hill, 1989.
    • (1989) The Metabolic Basis of Inherited Disease, Ed 6 , pp. 1565-1587
    • Neufeld, E.F.1    Muenzer, J.2
  • 6
    • 0028899004 scopus 로고
    • The presenting features of mucopotysaccharidosis type IH (Hurler syndrome)
    • Cleary MA, Wraith JE: The presenting features of mucopotysaccharidosis type IH (Hurler syndrome). Acta Paediatr 1995: 84: 337-9.
    • (1995) Acta Paediatr , vol.84 , pp. 337-339
    • Cleary, M.A.1    Wraith, J.E.2
  • 7
    • 0018157375 scopus 로고
    • Kyphosis in childhood and adolescence
    • Winter RB, Hall JE: Kyphosis in childhood and adolescence. Spine 1978; 3: 285-308.
    • (1978) Spine , vol.3 , pp. 285-308
    • Winter, R.B.1    Hall, J.E.2
  • 8
    • 0017585924 scopus 로고
    • Kyphosis secondary to skeletal dysplasias and metabolic disease
    • Hensinger RN: Kyphosis secondary to skeletal dysplasias and metabolic disease. Clin Orthop 1977; 128: 113-28.
    • (1977) Clin Orthop , vol.128 , pp. 113-128
    • Hensinger, R.N.1
  • 9
    • 3543076883 scopus 로고
    • Skeletal and genetic dysplasias
    • Edited by Canale ST, Beaty JH. St. Louis, MO, Mosby Year Book
    • Beaty JH: Skeletal and genetic dysplasias. In Operative Pediatric Orthopaedics, pp 331-56. Edited by Canale ST, Beaty JH. St. Louis, MO, Mosby Year Book, 1995.
    • (1995) Operative Pediatric Orthopaedics , pp. 331-356
    • Beaty, J.H.1
  • 12
    • 0024436561 scopus 로고
    • Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on paper matrix
    • Whitley CB, Draper KA, Dutton CM, Brown PA, Severson SL, France LA: Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on paper matrix. Clin Chem 1989; 35: 2074-81.
    • (1989) Clin Chem , vol.35 , pp. 2074-2081
    • Whitley, C.B.1    Draper, K.A.2    Dutton, C.M.3    Brown, P.A.4    Severson, S.L.5    France, L.A.6
  • 13
    • 0022408283 scopus 로고
    • Restriction fragment length polymorphism as markers of engraftment in allogenic marrow transplantation
    • Blazar BR, Orr HT, Arthur DC, Kersey JH, Filipovich AH: Restriction fragment length polymorphism as markers of engraftment in allogenic marrow transplantation. Blood 1985; 66: 1436-44.
    • (1985) Blood , vol.66 , pp. 1436-1444
    • Blazar, B.R.1    Orr, H.T.2    Arthur, D.C.3    Kersey, J.H.4    Filipovich, A.H.5
  • 15
    • 0022729447 scopus 로고
    • The application of bone marrow transplantation to the treatment of genetic diseases
    • Parkman R: The application of bone marrow transplantation to the treatment of genetic diseases. Science 1987; 232: 1373-8.
    • (1987) Science , vol.232 , pp. 1373-1378
    • Parkman, R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.