Genetic variants associated with Hermansky-Pudlak syndrome

Bleeding Assessment in female patients with the Hermansky-Pudlak syndrome - A Case Series

(2019) Joel Rivera-Concepción et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation

(2018) Souheil El-Chemaly et al.   PLoS One

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

(2016) S. Ammann et al.   BLOOD

Storage pool diseases illuminate platelet dense granule biogenesis

(2016) Andrea L. Ambrosio et al.   PLATELETS

Defective PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome

(2015) A. Sharda et al.   BLOOD

Defective release of   granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models

(2014) R. Meng et al.   BLOOD

Hermansky-Pudlak Syndrome: Health Care Throughout Life

(2013) S. L. Seward et al.   PEDIATRICS

Hermansky–Pudlak syndrome: Management of a rare bleeding disorder in a twin pregnancy

(2012) M. Nisal et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY

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(2012) Bernadette Gochuico et al.   MOLECULAR MEDICINE

Pirfenidone for the treatment of Hermansky–Pudlak syndrome pulmonary fibrosis

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

Novel mutations in the HPS1 gene among Puerto Rican patients

(2010) C Carmona-Rivera et al.   CLINICAL GENETICS

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

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