Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hermansky-Pudlak syndrome: health care throughout life.

Pediatrics - 1 Jul 2013

Seward Samuel L, Gahl William A

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease that displays genetic heterogeneity; there are 9 known subtypes. HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency and resultant bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin. Patients with HPS, specifically those with the genotypes HPS-1, HPS-2, or HPS-4, are predisposed to interstitial...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cooperative Behavior
Share to Albinism, Oculocutaneous
Share to Cross-Cultural Comparison

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disability Evaluation

Share to Hermanski-Pudlak Syndrome

Share to Interdisciplinary Communication

Share to Long-Term Care

Share to Puerto Rico

Source

Identifiers

PMID: 23753089
DOI: 10.1542/peds.2012-4003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hermansky-Pudlak syndrome: health care throughout life.PMID 23753089Read ↗

Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.Semantic proximity Read ↗

Hermansky-Pudlak Syndrome.Semantic proximity Read ↗

Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and TherapeuticsSemantic proximity Read ↗

Pulmonary Fibrosis in Hermansky-Pudlak SyndromeSemantic proximity Read ↗

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.Semantic proximity Read ↗

Hermansky-Pudlak syndrome: Mutation update.Semantic proximity Read ↗

Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant.Semantic proximity Read ↗

Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.Semantic proximity Read ↗

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.Semantic proximity Read ↗

Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.Semantic proximity Read ↗

Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.Semantic proximity Read ↗

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.