Hermansky-Pudlak Syndrome

Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder characterized by albinism, blood clotting defects, pulmonary fibrosis, and accumulation of ceroid in tissues. Mutations have been documented in 7 different genes, including HPS1, which is involved in pigment production. Discover the latest research on Hermansky-Pudlak Syndrome here.

May 22, 2020

Genetic variants associated with Hermansky-Pudlak syndrome

Melissa A MeridethBernadette R Gochuico
December 28, 2019

Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3

Anna LecchiBarbara Zieger
October 18, 2019
Case Report
Open Access

Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report

BMC Pulmonary Medicine
Martina DoubkováMichael Doubek
November 14, 2019
Open Access

Possible value of antifibrotic drugs in patients with progressive fibrosing non-IPF interstitial lung diseases

BMC Pulmonary Medicine
Sebastiano Emanuele TorrisiMichael Kreuter
April 16, 2019
Open Access

Familial Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Rare Missense Mutations in Context

American Journal of Respiratory and Critical Care Medicine
Robert S StearmanMark W Geraci
September 2, 2020

Partial Albinism and Immunodeficiency in patients with Hermansky Pudlak Type II: introducing 2 novel mutations

Scandinavian Journal of Immunology
Zahra AlizadehZahra Pourpak
July 30, 2020

Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients

Pigment Cell & Melanoma Research
Teng LiuAihua Wei
December 11, 2019

Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2

The Journal of Dermatology
Takuro NishikawaYoshifumi Kawano
August 8, 2020
Open Access

Platelet δ-Storage Pool Disease: An Update

Journal of Clinical Medicine
Arnaud DupuisChristian Gachet
February 5, 2020

The Mutation of the Ap3b1 Gene Causes Uterine Hypoplasia in Pearl Mice

Reproductive Sciences
Renwei JingLijun Feng
September 29, 2019
Open Access

Hexa-Longin domain scaffolds for inter-Rab signalling

Luis Sanchez-Pulido, Chris P Ponting
June 20, 2019
Open Access

Modeling of Fibrotic Lung Disease Using 3D Organoids Derived from Human Pluripotent Stem Cells

Cell Reports
Alexandros StrikoudisHans-Willem Snoeck
March 11, 2020
Case Report
Open Access

Fetal subdural hematoma, sickle cell disease and storage pool disease: A case report

Case Reports in Women's Health
Antonella IannacconeAngela Köninger
April 12, 2019

Hermansky-Pudlak syndrome type II and lethal hemophagocytic lymphohistiocytosis: Case description and review of the literature

The Journal of Allergy and Clinical Immunology. in Practice
Fabiola Dell'AcquaCarmelo Rizzari
October 8, 2020
Open Access

Hermansky-Pudlak syndrome-associated pneumothorax with rapid progression of respiratory failure: a case report

BMC Pulmonary Medicine
Yukari KatoKazuhisa Takahashi

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