Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)

Pediatrics

Volumn 121, Issue 2, 2008, Pages

  Martin, Rick ^a,g   Beck, Michael ^b   Eng, Christine ^c   Giugliani, Roberto ^d   Harmatz, Paul ^e   Muñoz, Verónica ^d   Muenzer, Joseph ^f  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^e CHILDREN S HOSPITAL OAKLAND   (United States)

^f UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^g SAINT LOUIS UNIVERSITY   (United States)

Author keywords

Lysosomal storage disease

Indexed keywords

ENZYME;

ENZYME REPLACEMENT; FACE DYSMORPHIA; GENE MUTATION; HUMAN; HUNTER SYNDROME; INCIDENCE; JOINT STIFFNESS; LUNG DISEASE; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

DIAGNOSIS, DIFFERENTIAL; FEMALE; HISTORY, 20TH CENTURY; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS II; PEDIGREE;

EID: 38849176942     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2007-1350     Document Type: Review

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