HERMANSKY-PUDLAK SYNDROME AND GRANULOMATOUS BOWEL INFLAMMATION - REVIEW ARTICLE AND CASE REPORT

• Հիմնական հեղինակներ: Urška Berden (Հեղինակ), Lidija Kitanovski (Հեղինակ), Darja Urlep (Հեղինակ)
• Ձևաչափ: Գիրք
• Հրապարակվել է: The Society for Children with Metabolic Disorders, 2022-11-01T00:00:00Z.
• Խորագրեր: article
• Առցանց հասանելիություն: Connect to this object online.

Hermansky-Pudlak syndrome (HPS) is a very rare genetically and phenotypically heterogeneous multisystemic disorder. It is mainly caused by impaired trafficking to lysosome-related organelles. Eleven genetic subtypes of HPS are currently recognised. All subtypes share the common phenotypic features o...