Results 121 to 130 of about 2,317 (179)

A rare case : Sjogren-larsson syndrome

Journal of the Pediatrics Association of India, 2017
Jayant Vagha, Anjali Kher, PatelZeeshan Jameel, Purnima Yadav, Jiwan Kinkar   +4 more
openaire   +1 more source

Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome. [PDF]

J Child Neurol, 2017
Hidalgo ET, Orillac C, Hersh A, Harter DH, Rizzo WB, Weiner HL.   +5 more
europepmc   +1 more source

Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome. [PDF]

Ann Lab Med, 2018
Kim JY, Kim SH, Park MJ, Kim SH, Cho WH, Choi J, Ki CS, You SJ.   +7 more
europepmc   +1 more source

Segmentation of Retinal Layers in Sjögren-Larsson Syndrome. [PDF]

Ophthalmology, 2015
Jack LS, Benson C, Sadiq MA, Rizzo WB, Margalit E.   +4 more
europepmc   +1 more source

Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome. [PDF]

Expert Opin Orphan Drugs, 2016
Rizzo WB.
europepmc   +1 more source

Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system. [PDF]

BMJ Case Rep, 2016
Roy U, Das U, Pandit A, Debnath A.
europepmc   +1 more source

Disruption of the Sjögren-Larsson Syndrome Gene Aldh3a2 in Mice Increases Keratinocyte Growth and Retards Skin Barrier Recovery. [PDF]

J Biol Chem, 2016
Naganuma T, Takagi S, Kanetake T, Kitamura T, Hattori S, Miyakawa T, Sassa T, Kihara A.   +7 more
europepmc   +1 more source

Typical clinical and neuroimaging features in Sjögren-Larsson syndrome

Arquivos de Neuro-Psiquiatria
Anderson Rodrigues Brandão de Paiva, Uirá Souto Melo, Fernando Freua, Denise Dória, Katiane Sayão Souza Cabral, Lúcia Inês Macedo-Souza, Leandro Tavares Lucato, Fernando Kok   +7 more
doaj   +1 more source

Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes. [PDF]

J Child Neurol, 2013
Davis K, Holden KR, S'Aulis D, Amador C, Matheus MG, Rizzo WB.   +5 more
europepmc   +1 more source

A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase. [PDF]

Nat Commun, 2014
Keller MA, Zander U, Fuchs JE, Kreutz C, Watschinger K, Mueller T, Golderer G, Liedl KR, Ralser M, Kräutler B, Werner ER, Marquez JA.   +11 more
europepmc   +1 more source