Literature DB >> 4351103

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

C J Witkop, C W Hill, S Desnick, J K Thies, H L Thorn, M Jenkins, J G White.   

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Year:  1973        PMID: 4351103     DOI: 10.1111/1523-1747.ep12702920

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


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  9 in total

1.  Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adult.

Authors:  Min Zhou; Libe Gradstein; John A Gonzales; Ekaterini T Tsilou; William A Gahl; Chi-Chao Chan
Journal:  Arch Ophthalmol       Date:  2006-07

2.  Hermansky-Pudlak syndrome with special reference to lysosomal dysfunction. A case report and review of the literature.

Authors:  A Takahashi; T Yokoyama
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1984

3.  Hermansky-Pudlak syndrome: albinism with lipofuscin storage.

Authors:  W R Fagadau; M H Heinemann; E Cotlier
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

4.  Vision in albinism.

Authors:  C G Summers
Journal:  Trans Am Ophthalmol Soc       Date:  1996

5.  Lysosomal dysfunctions associated with mutations at mouse pigment genes.

Authors:  E K Novak; R T Swank
Journal:  Genetics       Date:  1979-05       Impact factor: 4.562

6.  Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene.

Authors:  S Rosemblat; D Durham-Pierre; J M Gardner; Y Nakatsu; M H Brilliant; S J Orlow
Journal:  Proc Natl Acad Sci U S A       Date:  1994-12-06       Impact factor: 11.205

7.  Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.

Authors:  P E Kinnear; E G Tuddenham
Journal:  Br J Ophthalmol       Date:  1985-12       Impact factor: 4.638

8.  Albinism in childhood: a flash VEP and ERG study.

Authors:  I Russell-Eggitt; A Kriss; D S Taylor
Journal:  Br J Ophthalmol       Date:  1990-03       Impact factor: 4.638

9.  Hermansky-pudlak syndrome; a case report.

Authors:  Abbas Bagheri; Asieh Abdollahi
Journal:  J Ophthalmic Vis Res       Date:  2010-10
  9 in total

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