Hermansky-Pudlak Syndrome Latest Advances

Hermansky-Pudlak Syndrome Type 1 with pulmonary fibrosis: A case report and re-view of management.

Journal: RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin

Published: March 30, 2026

Common dominant-negative spectrum of SLC45A2 mutations in OCA4 defined by endoplasmic reticulum retention.

Journal: Biochemical and biophysical research communications

Published: March 03, 2026

A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling.

Journal: Translational vision science & technology

Published: February 18, 2026

Successful treatment of invasive squamous cell carcinoma and diffuse actinic keratoses by sequential ALA-PDT combined with surgery in a patient with oculocutaneous albinism.

Journal: European journal of dermatology : EJD

Published: January 29, 2026

Hermansky-Pudlak Syndrome.

Journal: Eye (London, England)

Published: January 25, 2026

Hermansky-Pudlak Syndrome Type 3 Complicated by Schizophrenia and Crohn's-Like Colitis.

Journal: The Journal of dermatology

Published: January 18, 2026

Insights from Computational Dynamic Active Site Mapping into Substrate Recognition and Mutation-Induced Dysfunction in Human Tyrosinase.

Journal: International journal of molecular sciences

Published: January 16, 2026

Platelet secretion defects and increased CD63 expression in Hermansky-Pudlak syndrome: a case report - Erratum.

Journal: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis

Published: January 01, 2026

Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.

Journal: Hematology reports

Published: December 22, 2025

Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.

Journal: Pigment cell & melanoma research

Published: December 04, 2025

Analysis of multi-trait evolution across independently evolved cavefish populations reveals shared and independent evolution of suites of cave-associated traits.

Journal: bioRxiv : the preprint server for biology

Published: November 24, 2025

Ampyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of Hypopigmentation.

Journal: bioRxiv : the preprint server for biology

Published: November 24, 2025

Hermansky-Pudlak Syndrome Latest Advances

Find the Latest Research About Hermansky-Pudlak Syndrome

Hermansky-Pudlak Syndrome Type 1 with pulmonary fibrosis: A case report and re-view of management.

Hermansky-Pudlak Syndrome Type 1 with pulmonary fibrosis: A case report and re-view of management.

Common dominant-negative spectrum of SLC45A2 mutations in OCA4 defined by endoplasmic reticulum retention.

Common dominant-negative spectrum of SLC45A2 mutations in OCA4 defined by endoplasmic reticulum retention.

A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling.

A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling.

Successful treatment of invasive squamous cell carcinoma and diffuse actinic keratoses by sequential ALA-PDT combined with surgery in a patient with oculocutaneous albinism.

Successful treatment of invasive squamous cell carcinoma and diffuse actinic keratoses by sequential ALA-PDT combined with surgery in a patient with oculocutaneous albinism.

Hermansky-Pudlak Syndrome.

Hermansky-Pudlak Syndrome.

Hermansky-Pudlak Syndrome Type 3 Complicated by Schizophrenia and Crohn's-Like Colitis.

Hermansky-Pudlak Syndrome Type 3 Complicated by Schizophrenia and Crohn's-Like Colitis.

Insights from Computational Dynamic Active Site Mapping into Substrate Recognition and Mutation-Induced Dysfunction in Human Tyrosinase.

Insights from Computational Dynamic Active Site Mapping into Substrate Recognition and Mutation-Induced Dysfunction in Human Tyrosinase.

Platelet secretion defects and increased CD63 expression in Hermansky-Pudlak syndrome: a case report - Erratum.

Platelet secretion defects and increased CD63 expression in Hermansky-Pudlak syndrome: a case report - Erratum.

Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.

Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.

Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.

Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.

Analysis of multi-trait evolution across independently evolved cavefish populations reveals shared and independent evolution of suites of cave-associated traits.

Analysis of multi-trait evolution across independently evolved cavefish populations reveals shared and independent evolution of suites of cave-associated traits.

Ampyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of Hypopigmentation.

Ampyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of Hypopigmentation.