نتایج جستجو برای: harlequin ichthyois
تعداد نتایج: 631 فیلتر نتایج به سال:
Hydrocarbon-inducible cytochrome P4501A (CYP1A) expression was measured, as ethoxyresorufin-O-deethylase (EROD) activity, in livers of wintering harlequin ducks (Histrionicus histrionicus) captured in areas of Prince William Sound, Alaska, USA, oiled by the 1989 Exxon Valdez spill and in birds from nearby unoiled areas, during 2005 to 2009 (up to 20 years following the spill). The present work ...
102 Ann Dermatol Received September 23, 2013, Revised December 10, 2013, Accepted for publication March 14, 2014 Corresponding author: Byung-Soo Kim, Department of Dermatology, Pusan National University Hospital, 179 Gudeok-ro, Seo-gu, Busan 602-739, Korea. Tel: 82-51-240-7338, Fax: 82-51-245-9467, E-mail: [email protected] This is an Open Access article distributed under the terms of the Crea...
BACKGROUND Therapeutic options in human mitochondrial oxidative phosphorylation (OXPHOS) diseases have been poorly evaluated mostly because of the scarcity of cohorts and the inter-individual variability of disease progression. Thus, while a high fat diet (HFD) is often recommended, data regarding efficacy are limited. Our objectives were 1) to determine our ability to evaluate therapeutic opti...
OBJECTIVE Transplanting exogenous neuronal progenitors to replace damaged neurons in the adult brain following injury or neurodegenerative disorders and achieve functional amelioration is a realistic goal. However, studies so far have rarely taken into consideration the preexisting inflammation triggered by the disease process that could hamper the effectiveness of transplanted cells. Here, we ...
Severe congenital skin abnormalities are a rare event. This case is unique in that it is a case of harlequin ichthyosis in sub-sahara Africa in a child of African origin and elaborates the challenges faced in its management. We present a neonate who was managed for this condition at Chogoria Mission Hospital. In presenting this case, we aim to sensitise healthcare providers to promptly recognis...
ABCA12: adenosine triphosphate binding cassette A12 HI: harlequin ichthyosis NICU: neonatal intensive care unit INTRODUCTION Harlequin ichthyosis (HI) is a rare autosomal recessive congenital ichthyosis associated with mutations in the keratinocyte lipid transporter adenosine triphosphate binding cassette A12 (ABCA12), leading to disruption in lipid and protease transport into lamellar granules...
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