Results 71 to 80 of about 1,180,431 (171)

SJÖGREN-LARSSON SYNDROME ASSOCIATED WITH MYELODYSPLASTIC SYNDROME: A CASE REPORT

Hematology, Transfusion and Cell Therapy
Introduction: The Sjögren-Larsson Syndrome (SSL) is a rare autoimmune disease that causes glandular inflammation, normally in salivary and lacrimal glands.
SCC Carneiro, ACG Lavor, JVG Gama, PRC Passos, MML Melo, JVC Goes, LR Sampaio, LO Laurindo, SMM Magalhães, RF Pinheiro   +9 more
doaj   +1 more source

MR spectroscopy and diffusion tensor imaging of the brain in Sjogren-Larsson syndrome

, 2009
Diffusion tensor imaging (DTI) is reported for the first time in a patient with Sjogren-Larsson syndrome, an autosomal recessive neurocutaneous disorder.
Lunsing, R. J., Potze, J. H., Oudkerk, M., van Spronsen, F. J., Oudkerk, M.; id_orcid, de Groot, J. C., Boon, M., Sijens, P. E., Westerlaan, H. E., de Groot, J. C.; id_orcid   +9 more
core   +1 more source

SAXS fingerprints of aldehyde dehydrogenase oligomers

Data in Brief, 2015
Enzymes of the aldehyde dehydrogenase (ALDH) superfamily catalyze the nicotinamide adenine dinucleotide-dependent oxidation of aldehydes to carboxylic acids.
John J. Tanner
doaj   +1 more source

Role of epigenetics and alterations in RNA metabolism in leukodystrophies

WIREs RNA, Volume 15, Issue 3, May/June 2024.
Leukodystrophies are rare brain disorders affecting white matter, with a clinical diversity still to be explained. Beyond genetics, epigenetic factors like histone modifications, DNA methylation, and non‐coding RNA dysregulation, as well as aberrant RNA maturation, are emerging as crucial contributors to these disorders.
Federica Rey, Letizia Esposito, Erika Maghraby, Alessia Mauri, Clarissa Berardo, Eleonora Bonaventura, Davide Tonduti, Stephana Carelli, Cristina Cereda   +8 more
wiley   +1 more source

Sjogren-Larsson syndrome - A case report

, 1993
In this study, a newborn infant with Sjogren-Larsson syndrome is presented with clinical, EEG and brain computed tomography findings, and congenital ichthyosiform dermatoses which progress with neurologic involvement, have been reviewed in differential ...
Kirimi E., Karaca M., Yazicioglu M., Utku U.   +3 more
core  

Síndrome de sjogren, uma doença auto-imune rara na infância. [PDF]

, 2007
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Beduschi Filho, Sérgio
core  

Sjogren-Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort

, 2012
Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by ichthyosis, spastic di- or tetraplegia and mental retardation due a defect of the fatty aldehyde dehydrogenase (FALDH), related to mutations in the ALDH3A2 gene.
Geneviève Giraud, Christine Francannet, Wanders, Ronald J. A., Afenjar, Alexandra, Mélanie Rigal, Catherine Vaurs-Barrière, Alexandra Afenjar, Odile Boespflug-Tanguy, Giraud, Geneviève, Imen Dorboz, Vaurs-Barrière, Catherine, Eymard-Pierre, Eléonore, Rigal, Mélanie, Combes, Patricia, Catherine Sarret, Boespflug-Tanguy, Odile, Dorboz, Imen, Francannet, Christine, Patricia Combes, Sarret, Catherine, Ronald J.A. Wanders, Eléonore Eymard-Pierre   +21 more
core   +1 more source

Studying fatty aldehyde metabolism in living cells with pyrene-labeled compounds

Journal of Lipid Research, 2012
The lack of fatty aldehyde dehydrogenase function in Sjögren Larsson Syndrome (SLS) patient cells not only impairs the conversion of fatty aldehydes into their corresponding fatty acid but also has an effect on connected pathways. Alteration of the lipid
Markus A. Keller, Katrin Watschinger, Karsten Lange, Georg Golderer, Gabriele Werner-Felmayer, Albin Hermetter, Ronald J.A. Wanders, Ernst R. Werner   +7 more
doaj   +1 more source

Sjogren′s Syndrome: A Review

, 2011
Sjogren′s syndrome, also known as "Mikulicz disease" or "Sicca syndrome" is a systemic autoimmune disease in which immune cells attack and destroy the exocrine glands that produce tears and saliva.
Rani Somani, M K Sunil, Dilip Kumar, Jaskirat Khaira   +3 more
core   +1 more source

Sjögren-Larsson Syndrome: A Rare Presentation With Developmental Delay. [PDF]

Cureus, 2023
J SK, Waheed MD, Batool S, Holder SS, Rodriguez Reyes Y, Guntha M.   +5 more
europepmc   +1 more source