Hermansky-Pudlak Syndrome Latest Advances

Find the Latest Research About Hermansky-Pudlak Syndrome

Last Updated: 09/26/2026

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Found 1788 publications

Homozygous 11q14.3 deletion causing oculocutaneous albinism and multisystem disorder.

Homozygous 11q14.3 deletion causing oculocutaneous albinism and multisystem disorder.

Journal: BMJ case reports
Published: August 28, 2026

Mild form of aromatic L-amino acid decarboxylase deficiency.

Mild form of aromatic L-amino acid decarboxylase deficiency.

Journal: BMJ case reports
Published: August 26, 2026

Patterns of Preimplantation Genetic Testing Utilization During In Vitro Fertilization in a Nigerian Fertility Centre: Sociodemographic Characteristics and Clinical Indications.

Patterns of Preimplantation Genetic Testing Utilization During In Vitro Fertilization in a Nigerian Fertility Centre: Sociodemographic Characteristics and Clinical Indications.

Journal: Nigerian medical journal : journal of the Nigeria Medical Association
Published: August 17, 2026

Early Genotype-Driven Diagnosis of Hermansky-Pudlak Syndrome Type 4 in a Child With Oculocutaneous Albinism: An Ophthalmic Case Report.

Early Genotype-Driven Diagnosis of Hermansky-Pudlak Syndrome Type 4 in a Child With Oculocutaneous Albinism: An Ophthalmic Case Report.

Journal: Cureus
Published: August 07, 2026

Ocular Safety and Efficacy of AAV-mediated Tyrosinase Gene Augmentation in a Nonhuman Primate Model.

Ocular Safety and Efficacy of AAV-mediated Tyrosinase Gene Augmentation in a Nonhuman Primate Model.

Journal: bioRxiv : the preprint server for biology
Published: July 29, 2026

Ocular Phenotypes and Novel SLC45A2 Variants in Patients with Oculocutaneous Albinism Type 4.

Ocular Phenotypes and Novel SLC45A2 Variants in Patients with Oculocutaneous Albinism Type 4.

Journal: Genes
Published: July 12, 2026

Acute hydrops in late-presentation keratoconus associated with oculocutaneous albinism.

Acute hydrops in late-presentation keratoconus associated with oculocutaneous albinism.

Journal: BMJ case reports
Published: July 01, 2026

Anaesthetic Management of Hermansky-Pudlak Syndrome with Major Hemorrhage: Based on a Case Report.

Anaesthetic Management of Hermansky-Pudlak Syndrome with Major Hemorrhage: Based on a Case Report.

Journal: Turkish journal of anaesthesiology and reanimation
Published: June 19, 2026

Ampyrone is a direct agonist of human tyrosinase and a potential therapeutic for hypopigmentation disorders.

Ampyrone is a direct agonist of human tyrosinase and a potential therapeutic for hypopigmentation disorders.

Journal: JCI insight
Published: June 18, 2026

Living in the sun's shadow: Skin cancer and albinism in Senegal.

Living in the sun's shadow: Skin cancer and albinism in Senegal.

Journal: JAAD international
Published: June 08, 2026

Targeting melanosome pH is an effective method for the treatment of oculocutaneous albinism.

Targeting melanosome pH is an effective method for the treatment of oculocutaneous albinism.

Journal: bioRxiv : the preprint server for biology
Published: June 05, 2026

The Role of SLC24A5 (NCKX5) in Human Skin Pigmentation: The Importance of Cation Transport Activity.

The Role of SLC24A5 (NCKX5) in Human Skin Pigmentation: The Importance of Cation Transport Activity.

Journal: Journal of molecular biology
Published: May 22, 2026
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Last Updated: 09/26/2026