Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 10/31/2025

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 800 publications

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

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

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

Hermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation.

Hermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation.

Journal: Oxford medical case reports
Published: May 28, 2025

A novel 5bp deletion in HPS4 gene associates with Hermansky-Pudlak Syndrome.

A novel 5bp deletion in HPS4 gene associates with Hermansky-Pudlak Syndrome.

Journal: Ophthalmic genetics
Published: May 18, 2025

Regulation of intracellular proliferation of Salmonella typhimurium by CD63.

Regulation of intracellular proliferation of Salmonella typhimurium by CD63.

Journal: Genes & genomics
Published: May 11, 2025

Differences in Visual Acuity Among Hermansky-Pudlak Syndrome Subtypes.

Differences in Visual Acuity Among Hermansky-Pudlak Syndrome Subtypes.

Journal: Cureus
Published: May 08, 2025
Showing 1-12 of 800

Last Updated: 10/31/2025