Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

Molecular Genetics and Metabolism Reports

Christina Hung¹  Olaf Bodamer¹  Roberto Giugliani²  Maurizio Scarpa³  Tom Pulles⁴ 

[1] Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA;Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Department of Genetics/UFRGS and INAGEMP, Porto Alegre, Brazil;Rare Disease Centre, Helios Dr. Horst Schmidt Clinic, Wiesbaden, Germany;Shire, Zug, Switzerland;

关键词: Growth;    Hunter syndrome;    Lysosomal storage disease;    Iduronate-2-sulfatase deficiency;   

DOI  :  10.1016/j.ymgmr.2017.02.004

来源: DOAJ

【 摘 要 】

There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter Outcome Survey (HOS). This analysis indicated that birth weight is not an early marker of MPS II and is not associated with disease severity. It remains important to investigate the utility of other factors for early/pre-symptomatic diagnosis.

【 授权许可】

Unknown