Results 61 to 70 of about 1,277,361 (159)

The needs of family members of people with severe or profound intellectual disabilities when collaborating with healthcare professionals: a systematic review

Journal of Intellectual Disability Research, Volume 69, Issue 1, Page 1-29, January 2025.
Abstract Background Collaboration with healthcare professionals is crucial in arranging necessary lifelong support for people with intellectual disabilities. However, family members often face challenges when collaborating with healthcare professionals.
K. van Beurden, F. R. Vereijken, N. Frielink, P. J. C. M. Embregts   +3 more
wiley   +1 more source

Sjögren–Larsson syndrome: accumulation of free fatty alcohols in cultured fibroblasts and plasma

Journal of Lipid Research, 2000
Sjögren–Larsson syndrome (SLS) is an inherited disorder associated with deficient oxidation of long-chain aliphatic alcohols. Previous studies have reported modest elevations in total (free + esterified) fatty alcohols in SLS, but free fatty alcohols ...
William B. Rizzo, Debra A. Craft
doaj   +1 more source

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.
Abstract Mental illnesses are one of the biggest contributors to the global disease burden. Despite the increased recognition, diagnosis and ongoing research of mental health disorders, the etiology and underlying molecular mechanisms of these disorders are yet to be fully elucidated.
Venuja Sriretnakumar, Ricardo Harripaul, James L. Kennedy, Joyce So   +3 more
wiley   +1 more source

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

Analysis and update of the human aldehyde dehydrogenase (ALDH) gene family

Human Genomics, 2005
The aldehyde dehydrogenase (ALDH) gene superfamily encodes enzymes that are critical for certain life processes and detoxification via the NAD(P)+-dependent oxidation of numerous endogenous and exogenous aldehyde substrates, including pharmaceuticals and
Vasiliou Vasilis, Nebert Daniel W
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

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

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

Proton magnetic resonance spectroscopy findings and clinical effects of montelukast sodium in a case with Sjogren-Larsson syndrome

, 2006
Sjogren-Larsson syndrome is a rare hereditary metabolic disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia.
Aydin, Kursad, Pirgon, Ozgur, Atabek, M. Emre   +2 more
core   +1 more source

Novel Missense ALDH3A2 Mutation in a Patient with Sjogren-Larsson Syndrome

, 2020
An 11-year-old boy presented with toe-walking, hyperkeratosis of the skin, dysarthric speech, and mild mental retardation. On neurological examination, mild fasciculation in the eyelids and bilateral end-point nystagmus were noted.
KONUŞKAN, BAHADIR, Cavdarli, Busranur, Topaloglu, Haluk, Tagiyev, Anar   +3 more
core   +1 more source