Results 111 to 120 of about 5,714 (207)

Multiple Bony Deformities and Short Stature in a Child with Lamellar Ichthyosis, What more can we do? A Case Report. [PDF]

J Orthop Case Rep, 2021
Sinha S, Sharma A, Gupta S, Agarwal A, Kanojia RK.   +4 more
europepmc   +1 more source

Management of harlequin ichthyosis in low-income countries [PDF]

, 2011
Mesia, D, Rossi, G
core   +2 more sources

LAMELLAR ICHTHYOSIS: ONE CASE REPORT

International Journal of Medical Reviews and Case Reports, 2019
Introduction: Ichthyosis is a heterogeneous group of skin disease characterized by generalized scaling. Lamellar ichthyosis is an autosomal recessive disorder with a mutation in the TGM 1 gene encodes the transglutaminase I protein was found. The scales reflect changes in epidermal differentiation.
openaire   +2 more sources

A Case Report of Ichthyosis Lamellar Syndrome

پزشکی بالینی ابن سینا, 2014
Introduction: Ichthyosis lamellar syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency.
Gholamreza Eshghi, Bita Sharafi, Hasan Faghani   +2 more
doaj  

Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis [PDF]

, 2016

core   +1 more source

How Small Polar Molecules Protect Membrane Systems against Osmotic Stress: The Urea−Water−Phospholipid System [PDF]

, 1994
We investigate how a small polar molecule, urea, can act to protect a phospholipid bilayer system against osmotic stress. Osmotic stress can be caused by a dry environment, by freezing, or by exposure to aqueous systems with high osmotic pressure due ...
Costa-Balogh, Fátima O., Wennerström, Hakan, Wadsö, Lars, Sparr, Emma   +3 more
core   +1 more source

Lamellar Ichthyosis [PDF]

, 2020
openaire   +3 more sources

Oral manifestations of lamellar ichthyosis in association with rickets. [PDF]

BMJ Case Rep, 2020
Tewari N, Mathur VP, Tamchos R, Rahul M.
europepmc   +1 more source

Triallelic Inheritance of TGM1 and ALOXE3 Mutations Associated with Severe Phenotype of Ichtyosis in an Iranian Family - A Case Report

Iranian Journal of Public Health, 2015
Lamellar ichthyosis is one form of congenital autosomal recessive ichthyosis. To date, seven causative genes for ARCI have been identified. To understand further the genetic spectrum of the disease, we analyzed a four-generation Iranian family with ARCI ...
Mohammad Taghi AKBARI, Mojgan ATAEI-KACHOUI   +1 more
doaj  

Corneal ulcer secondary to ectropion in lamellar Ichthyosis: A rare congenital disorder. [PDF]

Saudi J Ophthalmol, 2020
Bhedasgaonkar SS, Nadkarni SU.
europepmc   +1 more source