HERMANSKY-PUDLAK SYNDROME WITH GRANULOMATOUS COLITIS
HERMANSKY-PUDLAK SYNDROME WITH GRANULOMATOUS COLITIS
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DOI：
10.7326/0003-4819-92-1-20
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发表时间：
1980-01-01
影响因子：
39.2
通讯作者：
COX, RP
中科院分区：
文献类型：
--
作者：
SCHINELLA, RA;GRECO, MA;COX, RP
The Hermansky-Pudlak syndrome consists of tyrosine-positive albinism, a defect in the 2nd phase of platelet aggregation and widespread accumulation of a ceroidlike pigment in tissue. Pulmonary fibrosis was also reported. Two families are described with documented Hermansky-Pudlak syndrome in which 4 members, 2 from each family, developed granulomatous colitis. This adds another disease entity to those associated with this syndrome. Possible connecting links between these disease expressions are discussed.
