Infantile systemic hyalinosis: Variable grades of severity

Infantile systemic hyalinosis: Variable grades of severity

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...

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Main Authors: Ali Al Kaissi (Author), Marwa Hilmi (Author), Zulfiya Betadolova (Author), Sami Bouchoucha (Author), Svetlana Trofimova (Author), Mohammad Shboul (Author), Guseyn Rustamov (Author), Wiam Dwera (Author), Katharina Sigl (Author), Vladimir Kenis (Author), Susanne Gerit Kircher (Author)
Format: Book
Published: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
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3rd Floor Main Library

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