Retinitis pigmentosa and mucopolysaccharidosis type II: An extremely attenuated phenotype

Journal of Inherited Metabolic Disease

Volumn 32, Issue 4, 2009, Pages 582-583

  Suzuki, Y ^a   Aoyama, A ^a   Kato, T ^a   Shimozawa, N ^b   Orii, T ^c  

^a GIFU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b GIFU UNIVERSITY   (Japan)

^c Orii Clinic   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CREATININE; CYTOSINE; DERMATAN SULFATE; GLYCOSAMINOGLYCAN; HEPARAN SULFATE; IDURONATE 2 SULFATASE; THYMINE;

ADULT; AORTA VALVE REGURGITATION; ARTICLE; CASE REPORT; CELL LEVEL; CLINICAL FEATURE; CREATININE URINE LEVEL; ENZYME ACTIVITY; HEARING IMPAIRMENT; HUMAN; HUNTER SYNDROME; JAPANESE; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; OPHTHALMOSCOPY; PHENOTYPE; RETINITIS PIGMENTOSA; VISUAL DISORDER;

ADULT; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS II; PHENOTYPE; RETINITIS PIGMENTOSA;

EID: 69449108614     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1204-y     Document Type: Article

References (2)

1. Ashworth JL, Biswas S, Wraith E, Lloyd IC. Mucopolysaccharidosis and the eye. Surv Ophthalmol 2006: 51: 1-17. doi: 10.1016/ j.survophthal.2005.11.007
2. Young ID, Harper PS. Mild form of Hunter syndrome: Clinical delineation based on 31 cases. Arch Dis Child 1982; 57: 828-836. doi: 10.1136/ adc.57.11.828