HERMANSKY-PUDLAK SYNDROME AND GRANULOMATOUS BOWEL INFLAMMATION - REVIEW ARTICLE AND CASE REPORT
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...
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| Main Authors: | , , |
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| Format: | Book |
| Published: |
The Society for Children with Metabolic Disorders,
2022-11-01T00:00:00Z.
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