Hermansky–Pudlak syndrome

WDJ Rojas, LR Young - Seminars in respiratory and critical …, 2020 - thieme-connect.com
Hermansky–Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder
characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis …

Hermansky–Pudlak syndrome: mutation update

M Huizing, MCV Malicdan, JA Wang… - Human …, 2020 - Wiley Online Library
Hermansky–Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem
disorders, each defined by the deficiency of a specific gene. HPS‐associated genes encode …

[HTML][HTML] Hermansky-Pudlak Syndrome

WJ Introne, M Huizing, MCV Malicdan, KJ O'Brien… - 2021 - europepmc.org
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a
bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis …

[HTML][HTML] Hermansky-pudlak syndrome

M Huizing, MCV Malicdan, BR Gochuico, WA Gahl - 2021 - europepmc.org
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a
bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or …

Inflammatory bowel disease in Hermansky–Pudlak syndrome: a retrospective single‐centre cohort study

KJ O'Brien, X Parisi, NR Shelman… - Journal of Internal …, 2021 - Wiley Online Library
Background Knowledge about inflammatory bowel disease (IBD) in patients with Hermansky–
Pudlak syndrome (HPS), a rare autosomal recessive disorder characterized by defective …

Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes

Q Zaman, Sadeeda, M Anas, G Rehman, Q Khan… - Genes, 2023 - mdpi.com
Background: Hermansky–Pudlak syndrome (HSP) was first reported in 1959 as
oculocutaneous albinism with bleeding abnormalities, and now consists of 11 distinct …

[HTML][HTML] Granulomatous Colitis Due to Hermansky-Pudlak Syndrome

H Koulali, S Azzmouri, M Tajir, K Zerrouki… - ACG Case Reports …, 2024 - journals.lww.com
Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder characterized by
oculocutaneous albinism, bleeding diathesis, and multiorgan involvement. Granulomatous …

Biologic therapies for the management of cutaneous findings in genodermatoses: a review

TP Joshi, HY Wang, P Athukuri, S Bohac… - American Journal of …, 2022 - Springer
Genodermatoses are genetically inherited dermatologic conditions. The management of
cutaneous findings in genodermatoses is challenging, and first-line therapies, such as …

[PDF][PDF] Sadeeda

Q Zaman - Anas, M - academia.edu
Background: Hermansky–Pudlak syndrome (HSP) was first reported in 1959 as
oculocutaneous albinism with bleeding abnormalities, and now consists of 11 distinct …

Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report

J Ishihara, T Mizuochi, T Uchida, Y Takaki… - BMC …, 2019 - Springer
Abstract Background Hermansky-Pudlak syndrome (HPS) is a rare, genetically
heterogeneous disorder that manifests oculocutaneous albinism together with bleeding …