Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report

Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report

Abstract Background Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder that manifests oculocutaneous albinism together with bleeding diatheses that reflect a platelet storage pool deficiency. Ten genetic subtypes of this autosomal recessive condition have been described to...

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Bibliographic Details
Main Authors: Jun Ishihara, Tatsuki Mizuochi, Takashi Uchida, Yugo Takaki, Ken-ichiro Konishi, Masahiko Joo, Yasuhiko Takahashi, Shinichiro Yoshioka, Hironori Kusano, Yoji Sasahara, Yushiro Yamashita
Format: Article
Language:English
Published: BMC 2019-01-01
Series:BMC Gastroenterology
Subjects:
Hermansky-Pudlak syndrome
Early-onset inflammatory bowel disease
Monogenic inflammatory bowel disease
Infliximab
Online Access:http://link.springer.com/article/10.1186/s12876-019-0929-9

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http://link.springer.com/article/10.1186/s12876-019-0929-9

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