Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.

[1]  S. Reu,et al.  Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood , 2018, Orphanet Journal of Rare Diseases.

[2]  W. Gahl,et al.  Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation , 2018, PloS one.

[3]  L. Lancaster,et al.  An Open-Label Study of the Long-Term Safety of Pirfenidone in Patients with Idiopathic Pulmonary Fibrosis (RECAP) , 2017, Respiration.

[4]  A. Schulz,et al.  Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. , 2016, Blood.

[5]  R. D. du Bois,et al.  Safety of pirfenidone in patients with idiopathic pulmonary fibrosis: integrated analysis of cumulative data from 5 clinical trials , 2016, BMJ Open Respiratory Research.

[6]  R. Sussman,et al.  A phase 3 trial of pirfenidone in patients with idiopathic pulmonary fibrosis. , 2014, The New England journal of medicine.

[7]  Neil A. Miller,et al.  Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. , 2012, Blood.

[8]  W. Gahl,et al.  Interstitial Lung Disease and Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Type 2, an Adaptor Protein-3 Complex Disease , 2012, Molecular medicine.

[9]  Jianhua Yao,et al.  Automated quantification of high-resolution CT scan findings in individuals at risk for pulmonary fibrosis. , 2011, Chest.

[10]  J. Troendle,et al.  Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. , 2011, Molecular genetics and metabolism.

[11]  S. Sahn,et al.  Pirfenidone in patients with idiopathic pulmonary fibrosis (CAPACITY): two randomised trials , 2011, The Lancet.

[12]  A. Mumford,et al.  Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1 , 2010, Haematologica.

[13]  W. Gahl,et al.  Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1. , 2009, American journal of respiratory and critical care medicine.

[14]  W. Travis,et al.  Progressive preclinical interstitial lung disease in rheumatoid arthritis. , 2008, Archives of internal medicine.

[15]  W. Gahl,et al.  Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype. , 2006, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

[16]  Colin A. Johnson,et al.  A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). , 2006, American journal of human genetics.

[17]  W. Gahl,et al.  Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome. , 2005, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

[18]  Naoki Oiso,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) , 2003, Nature Genetics.

[19]  W. Gahl,et al.  Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics , 2001, Human Genetics.

[20]  B. Roe,et al.  Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6 , 2003, Nature Genetics.

[21]  A. Dwyer,et al.  Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. , 2002, AJR. American journal of roentgenology.

[22]  J. Troendle,et al.  Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. , 2002, Molecular genetics and metabolism.

[23]  Wei Li,et al.  Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene , 2002, Nature Genetics.

[24]  S. Bale,et al.  Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico , 2001, Nature Genetics.

[25]  W. Gahl,et al.  Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. , 2000, Chest.

[26]  J. Bonifacino,et al.  Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. , 1999, Molecular cell.

[27]  E. Kuehl,et al.  Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). , 1998, The New England journal of medicine.

[28]  Richard A. Spritz,et al.  Positional cloning of a gene for Hermansky–Pudlak syndrome, a disorder of cytoplasmic organelles , 1996, Nature Genetics.