Clinical and genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review

• 主要な著者: Zhuhui Ge (著者), Jianhua Mao (著者), Huijun Shen (著者), Yu Xu (著者), Haidong Fu (著者), Weiwei Zhang (著者), Dongyan Li (著者)
• フォーマット: 図書
• 出版事項: BMC, 2021-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder. Up to now, reports on the clinical characteristics of MPS IVA mainly focused on patients with progressive bone dysplasia and multiple organ damage, while the effects...