References
- Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies. Blood 1959;14:162–169
- Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, et al. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol 2006;126(1):85–90
- Shotelersuk V, Dell’Angelica EC, Hartnell L, et al. A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Am J Med 2000;108:423–427
- Orkin SH, Nathan DG, Ginsburg D, Look AT. Nathan and Oski's Hematology of Infancy and Childhood; Elsevier Health Sciences, 2009;1386
- Huizing M, Helip-Wooley A, Westbroek W, et al. Disorders of lysosome-related organelle biogenesis: Clinical and molecular genetics. Annu Rev Genomics Hum Genet 2008;9:359–386
- Huizing M, Sarangarajan R, Strovel E, et al. AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes. Mol Biol Cell 2001c;12:2075–2085
- Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA. Hermansky-Pudlak syndrome type 1: Gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hum Mutat 2002;20:482
- Masliah-Planchon J, Darnige L, Bellucci S. Molecular determinants of platelet delta storage pool deficiencies: An update. Br J Haematol 2013;160(1):5–11
- Lee AC, Poon KH, Lo WH, et al. Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child. World J Gastroenterol 2008;14:2939–2941
- Mora AJ, Wolfsohn DM. The management of gastrointestinal disease in Hermansky-Pudlak syndrome. J Clin Gastroenterol 2011;45(8):700–702
- Witkop CJ, Almadovar C, Pineiro B, Nunez Babcock M. Hermansky-Pudlak syndrome (HPS): An epidemiologic study. Ophthalm Paediatr Genet 1990a;11:245–250
- O'Brien K, Troendle J, Gochuico BR, et al. Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab 2011;103(2):128–134
- Toro J, Turner M, Gahl WA. Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. Arch Dermatol 1999;135:774–780
- Thielen N, Huizing M, Krabbe JG, et al. Hermansky-Pudlak syndrome: The importance of molecular subtyping. J Thromb Haemost 2010;8:1643–1645
- Gahl WA, Huizing M. Hermansky-Pudlak Syndrome. In: GeneReviews™ (Pagon RA, Bird TD, Dolan CR, et al., Eds.); Seattle, WA: University of Washington, 1993. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1287/ [Last accessed 2 Nov 2012]
- Fontana S, Parolini S, Vermi W, et al. Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood 2006;107:4857–4864
- Suzuki T, Wei L, Zhang Q, et al. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 2002;30:321–324
- Huizing M, Anikster Y, Fitzpatrick DL, et al. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet 2001a;69:1022–1032
- Di Pietro SM, Falcon-Perez JM, Dell'Angelica EC. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic 2004;5:276–283
- Anderson PD, Huizing M, Claassen DA, et al. Hermansky-Pudlak syndrome type 4 (HPS-4): Clinical and molecular characteristics. Hum Genet 2003;113:10–17
- Huizing M, Hess R, Dorward H, et al. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic 2004;5:711–722
- Huizing M, Pederson B, Hess RA, et al. Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. J Med Genet 2009 December; 46(12):803–810
- Falcon-Perez JM, Starcevic M, Gautam R, Dell'Angelica EC. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. J Biol Chem 2002;277:28191–28199
- Li W, Zhang Q, Oiso N, et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet 2003;35:84–89
- Cullinane AR, Curry JA, Golas G, et al. A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8 (HPS-8). Pigment Cell Melanoma Res 2012;25:584–591
- Cullinane AR, Curry JA, Carmona-Rivera C, et al. A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9. Am J Hum Genet 2011;88:778–787