Infantile systemic hyalinosis: Variable grades of severity

• Asıl Yazarlar: Ali Al Kaissi (Yazar), Marwa Hilmi (Yazar), Zulfiya Betadolova (Yazar), Sami Bouchoucha (Yazar), Svetlana Trofimova (Yazar), Mohammad Shboul (Yazar), Guseyn Rustamov (Yazar), Wiam Dwera (Yazar), Katharina Sigl (Yazar), Vladimir Kenis (Yazar), Susanne Gerit Kircher (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Background: Infantile systemic hyalinosis (ISH) is an autosomal recessively inherited disorder. The classical natural history of the disease is characterised by hypotonia, multiple contractures, skin lesions, osteopenia, joint pain, bone fractures, persistent diarrhoea and growth deficiency. Materia...