- 英
- pseudo-Hurler disease
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- 1. ムコ多糖症：臨床的特徴および診断mucopolysaccharidoses clinical features and diagnosis [show details]
… umbilical hernia (each in four patients) . Hurler-Scheie is less common than Hurler. Characteristic facial features are less coarsened than in Hurler syndrome and often include a small mandible. Progressive …
- 2. ムコ多糖症：治療mucopolysaccharidoses treatment [show details]
… illustrated in a prospective, open-label, multinational study that included 16 children with Hurler syndrome and four with Hurler-Scheie . Clinical improvements were noted in 94 percent of patients at week 52 (eg …
- 3. ムコ多糖症：合併症mucopolysaccharidoses complications [show details]
…Cardiomyopathy and endocardial fibroelastosis occur rarely in young, severely affected patients with Hurler syndrome (MPS I) and MPS VI . Cardiac problems may be complicated by coronary artery and other vascular …
- 4. 先天性代謝異常：疫学、病因、および臨床的特徴inborn errors of metabolism epidemiology pathogenesis and clinical features [show details]
…(formerly known as "Mongolian spots") – Lysosomal storage diseases such as Hurler syndrome (mucopolysaccharidosis type I Hurler [MPS I H]) and GM1 gangliosidosis type 1 Nonimmune hydrops fetalis (abnormal…
- 5. 先天異常：評価アプローチbirth defects approach to evaluation [show details]
…extremities) Extremities Limited range of motion (arthrogryposis, storage disorders [such as Hurler or Hurler-Scheie syndrome], contractures [disorders affecting neuromuscular function like myotonic dystrophy…
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- 英
- disease、sickness
- 関
- 疾病、不調、病害、病気、疾患
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- 英
- pseudo
- 関
- 仮性、ニセ