Clinical aspects of mucopolysaccharidosis type II;Mucopolisacaridosis de tipo II: Aspectos clínicos

Revista de Neurologia

Volumn 44, Issue SUPPL. 1, 2007, Pages

  Sanjurjo Crespo, Pablo ^a  

^a HOSPITAL DE CRUCES   (Spain)

Author keywords

Hunter syndrome; Mucopolysaccharidosis; Neonatal screening

Indexed keywords

IDURONATE 2 SULFATASE;

BONE MALFORMATION; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; ENZYME REPLACEMENT; HUMAN; HUNTER SYNDROME; NEUROLOGICAL COMPLICATION; NEWBORN SCREENING; PHENOTYPE; REVIEW;

HUMANS; MUCOPOLYSACCHARIDOSIS II;

EID: 37549008269     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (11)

1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001; p. 1553-88.
2. Bueno-Sánchez M, Ramos-Fuentes FJ. Mucopolisacaridosis. In Sanjurjo P, Baldellou A, eds. Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias. Madrid: Ergon; 2006. p. 621-9.
3. Young ID, Harper PS. Mild form of Hunter's syndrome: clinical delineation based on 31 cases. Arch Dis Child 1982; 57: 828-32.
4. Caruso RC, Kaiser-Kupfer MI, Muenzer J, Ludwing IH, Zasloff MA, Mercer PA. Electroretinographic findings in the mucopolysacharidoses. Ophtalmologhy 1986; 93: 1612-6.
5. Vinchon M, Cotten A, Clarisse J, Chiki R, Christiaens JL. Cervical mielopathy secondary to Hunter syndrome in an adult. AJNR Am J Neuroradiol 1995; 16: 1402-5.
6. Wilson JMG, Jungner G. Principles and practice of screening for disease. Public Health Papers 34. Geneva:World Health Organization; 1968.
7. Van Mier N, De Smet L. Carpal tunnel syndrome in children. J Pediatr Orthop 2005; 14: 42-5.
8. García-Riego A, Prats JM, Sanjurjo P. Mucopolisacaridosis: células tesaurismóticas en el líquido cefalorraquí deo. Citología 1983; 5: 913.
9. Chamoles NA, Blanco MB, Gaggioli D, Casentini C. Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper. Clin Chem 2001; 47: 2098-102.
10. Sanjurjo-Crespo P, Aldámiz-Echevarría L, Baldellou-Vázquez A. Síntomas guía de las enfermedades lisosomales. Una orientación para el pediatra general. Acta Pediatr Esp 2005; 63: 243-7.
11. Filocamo M, Bonucelli G, Corsolini F, Mazzotti R, Cusano R, Gatti R. Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: new mutation in the iduronato-2-sulfatase (IDS) gene. Hum Mutat 2001; 18: 164-5.