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Last Updated: 01/07/2026

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Found 804 publications

A novel homozygous HPS4 mutation in Hermansky-Pudlak syndrome: case report and literature review.

A novel homozygous HPS4 mutation in Hermansky-Pudlak syndrome: case report and literature review.

Journal: Therapeutic advances in respiratory disease
Published: November 24, 2025

Hermansky-Pudlak Syndrome.

Hermansky-Pudlak Syndrome.

Journal: Clinics in chest medicine
Published: October 19, 2025

Spontaneous mutant in threespine stickleback connects endosome trafficking disorders and inflammatory bowel diseases via changes in the gut microbiome.

Spontaneous mutant in threespine stickleback connects endosome trafficking disorders and inflammatory bowel diseases via changes in the gut microbiome.

Journal: bioRxiv : the preprint server for biology
Published: September 26, 2025

Clinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: a systematic review.

Clinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: a systematic review.

Journal: Therapeutic advances in respiratory disease
Published: September 08, 2025

A novel HPS3 pathogenic nonsense variant associated with Hermansky-Pudlak syndrome type 3 and a platelet dysfunction.

A novel HPS3 pathogenic nonsense variant associated with Hermansky-Pudlak syndrome type 3 and a platelet dysfunction.

Journal: Molecular biology reports
Published: August 22, 2025

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

Journal: medRxiv : the preprint server for health sciences
Published: August 12, 2025

Hermansky-Pudlak Syndrome Pulmonary Fibrosis: Monogenic Disorder, Multi-omics Discovery.

Hermansky-Pudlak Syndrome Pulmonary Fibrosis: Monogenic Disorder, Multi-omics Discovery.

Journal: American journal of respiratory cell and molecular biology
Published: July 30, 2025

Choline and CCL22 Are Prognostic Blood Biomarkers for Hermansky-Pudlak Syndrome Pulmonary Fibrosis.

Choline and CCL22 Are Prognostic Blood Biomarkers for Hermansky-Pudlak Syndrome Pulmonary Fibrosis.

Journal: American journal of respiratory cell and molecular biology
Published: July 28, 2025

A novel homozygous splice-site variant in VPS33B identified as a cause of bleeding.

A novel homozygous splice-site variant in VPS33B identified as a cause of bleeding.

Journal: Journal of thrombosis and haemostasis : JTH
Published: June 25, 2025

Refractory Colitis in Hermansky-Pudlak Syndrome: A Surgical Case Report.

Refractory Colitis in Hermansky-Pudlak Syndrome: A Surgical Case Report.

Journal: Cureus
Published: June 22, 2025

Griscelli Syndrome: A Case Report from Pakistan, A Review of the Literature, and an Approach to Hematological Disorders Associated With Albinism.

Griscelli Syndrome: A Case Report from Pakistan, A Review of the Literature, and an Approach to Hematological Disorders Associated With Albinism.

Journal: Cureus
Published: June 20, 2025

High bleeding rates in δ-storage pool disease during surgeries and deliveries.

High bleeding rates in δ-storage pool disease during surgeries and deliveries.

Journal: Research and practice in thrombosis and haemostasis
Published: June 09, 2025
Showing 1-12 of 804

Last Updated: 01/07/2026