Complicated Crohn's-like colitis, associated with Hermansky-Pudlak syndrome, treated with Infliximab: a case report and brief review of the literature [PDF]
, 2007 George Kouklakis +15 more
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Histochemical and cellular changes accompanying the appearance of lung fibrosis in an experimental mouse model for Hermansky Pudlak syndrome [PDF]
, 2010 Lingyan Wang, Timothy Lyerla
core +1 more source
گزارش اولين مورد سندرم فاميلی آلبينيسم چشمی ـ پوستی نوزادی در همراهی با سندرم [PDF]
, 2007 مقدمه: آلبينيسم شامل گروهی از شرايط بالينی میباشد که به صورت ارثی منتقل میگردند. در مبتلايان به بيماری، رنگدانه ملانين در چشم، پوست و مو، کم است يا وجود ندارد.
خالصی, نسرین +2 more
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Hermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease. [PDF]
Cureus, 2023 Alhozali H.
europepmc +1 more source
Black kidney in Albinism [PDF]
Journal of Nephropathology, 2014 Mohammad-Reza Ardalan
doaj +1 more source
Hermansky-Pudlak Syndrome Pulmonary Fibrosis: Monogenic Disorder, Multi-Omics Discovery. [PDF]
Am J Respir Cell Mol BiolGhincea A, Herzog EL.
europepmc +1 more source
Hermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation. [PDF]
Oxf Med Case ReportsBalaraddi V, Nawlakhe K, K S, Bandiya P.
europepmc +1 more source
Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes. [PDF]
Genes (Basel), 2023 Zaman Q +13 more
europepmc +1 more source
Refractory Colitis in Hermansky-Pudlak Syndrome: A Surgical Case Report. [PDF]
CureusSerpa-Irizarry M +5 more
europepmc +1 more source
Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome. [PDF]
Genes (Basel), 2022 Chen C, Wang R, Yuan Y, Li J, Yu X.
europepmc +1 more source