II型黏多糖贮积症患者的出生体重：来自亨特结果调查（HOS）的数据。
Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).
作者信息
Bodamer Olaf, Scarpa Maurizio, Hung Christina, Pulles Tom, Giugliani Roberto
机构信息
Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
Rare Disease Centre, Helios Dr. Horst Schmidt Clinic, Wiesbaden, Germany.
出版信息
Mol Genet Metab Rep. 2017 May 3;11:62-64. doi: 10.1016/j.ymgmr.2017.02.004. eCollection 2017 Jun.
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.
需要确定早期疾病标志物以促进II型粘多糖贮积症（MPS II；亨特综合征）的诊断。对参与亨特结果调查（HOS）的609名患者的平均出生体重及其与疾病严重程度的关联进行了研究。该分析表明，出生体重不是MPS II的早期标志物，且与疾病严重程度无关。研究其他因素在早期/症状前诊断中的效用仍然很重要。
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