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Literature DB >> 4084482

Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.

Abstract

Four cases of albinism with haemorrhagic diathesis (Hermansky-Pudlak syndrome) are presented. The cases displayed wide phenotypic variation. Electroretinography was performed on all four patients and was found to be normal. One patient developed a cutaneous malignant melanoma.

Entities: Disease Species

Mesh：

Year: 1985 PMID： 4084482 PMCID： PMC1040879 DOI： 10.1136/bjo.69.12.904

Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638

22 in total

1. VASCULAR PSEUDOHEMOPHILIA ASSOCIATED WITH CEROID PIGMENTOPHAGIA IN ALBINOS.

Authors: B BEDNAR; F HERMANSKY; Z LOJDA
Journal: Am J Pathol Date: 1964-08 Impact factor: 4.307

2. Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome.

Authors: B H Davies; E G Tuddenham
Journal: Q J Med Date: 1976-04

3. [Fatal bleeding following tooth extraction. Hermansky-Pudlak-syndrome].

Authors: F Theuring; J Fiedler
Journal: Dtsch Stomatol Date: 1973-01

4. Ophthalmologic, biochemical, platelet, and ultrastructural defects in the various types of oculocutaneous albinism.

Authors: C J Witkop; C W Hill; S Desnick; J K Thies; H L Thorn; M Jenkins; J G White
Journal: J Invest Dermatol Date: 1973-06 Impact factor: 8.551

5. Bleeding tendency associated with "new" abnormality of platelet behaviour.

Authors: R M Hardisty; R A Hutton
Journal: Lancet Date: 1967-05-06 Impact factor: 79.321

6. The platelet defect associated with albumism.

Authors: R M Hardisty; D C Mills; K Ketsa-Ard
Journal: Br J Haematol Date: 1972-12 Impact factor: 6.998

7. Effects of normal and aspirin platelets on defective secondary aggregation in the Hermansky-Pudlak syndrome. A test for storage pool deficient platelets.

Authors: J G White; C J Witkop
Journal: Am J Pathol Date: 1972-07 Impact factor: 4.307

8. Cerebral ceroidosis in albinos.

Authors: B Bednár; A Jirásek
Journal: Pathol Eur Date: 1968

9. Hairbulb tyrosinase activity in oculocutaneous albinism.

Authors: R A King; C J Witkop
Journal: Nature Date: 1976-09-02 Impact factor: 49.962

Review 10. Albinism.

Authors: C J Witkop
Journal: Adv Hum Genet Date: 1971

3 in total