Early presentation in the mucopolysaccharide disorders

Child: Care, Health and Development

Volumn 22, Issue 1, 1996, Pages 31-36

  Colville, G A ^a   Bax, M A ^b  

^a HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^b CHELSEA AND WESTMINSTER HOSPITAL   (United Kingdom)

Author keywords

Hunter syndrome; Hurler syndrome; Morquio syndrome; Mucopolysaccharidosis; Sanfilippo syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; FEMALE; GENETICS; HUMAN; INFANT; MALE; MASS SCREENING; MUCOPOLYSACCHARIDOSIS; PHENOTYPE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT; MALE; MASS SCREENING; MUCOPOLYSACCHARIDOSES; PHENOTYPE;

EID: 0029688206     PISSN: 03051862     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2214.1996.tb00420.x     Document Type: Article

References (7)

1. Bax, M. & Colville, G. A. (1996) Behaviour in the mucopolysaccharide disorders. Archives of Disease in Childhood (in press) .
2. Lowry, M. & Renwicks, S. (1978) Relative Frequency of the Hurler and Hunter syndromes. New England Journal of Medicine, 284, 221-222.
3. McKusick, V.A. & Neufeld E.F. (1983) The Mucopolysaccharide Storage Disease. In: The Metabolic Basis of Inherited Disease. 5M edn. eds J.B. Stanbury, J.B. Wyngaarden, D.S. Fredricks, J.L. Goldstein & M.S. Brown, McGraw-Hill, New York.
4. Nidifer, F.D. & Kelly, K.E. (1983) Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study. Journal Mental Deficiency Research, 27, 185-203.
5. Spranger, J. (1972) The systemic Mucopolysaccharidoses. Ergebnisse der Inneren Medizin Kinderheilkunde, MF32, 166-265.
6. Van de Kamp, J.J.P., Niermeijer, M.F., Von Figura, K. & Giesberts, M.A.H. (1981) Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B and C). Clinical Genetics, 2c, 152-160.
7. Young, I.D., Harper, P.S., Archer, I.M. & Newcombe, R.G. (1982) A clinical and genetic study of Hunter's syndrome. II Differences between the mild and severe forms. Journal of Medical Genetics, 19, 408-411.