The Hermansky-Pudlak Syndrome: Clinical Features and Imperatives from an Ophthalmic Perspective

Molecular determinants of platelet delta storage pool deficiencies: an update

(2012) Julien Masliah-Planchon et al.   BRITISH JOURNAL OF HAEMATOLOGY

A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8

(2012) Andrew R. Cullinane et al.   Pigment Cell & Melanoma Research

RETRACTED: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

(2011) Andrew R. Cullinane et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pirfenidone for the treatment of Hermansky–Pudlak syndrome pulmonary fibrosis

(2011) Kevin O'Brien et al.   MOLECULAR GENETICS AND METABOLISM

The Management of Gastrointestinal Disease in Hermansky-Pudlak Syndrome

(2010) Adrian J. Mora et al.   JOURNAL OF CLINICAL GASTROENTEROLOGY

Hermansky-Pudlak syndrome: the importance of molecular subtyping

(2010) N. THIELEN et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

(2009) M Huizing et al.   JOURNAL OF MEDICAL GENETICS

Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics

(2008) Marjan Huizing et al.   Annual Review of Genomics and Human Genetics

Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child

(2008) Anselm Chi-Wai Lee et al.   WORLD JOURNAL OF GASTROENTEROLOGY