Results 61 to 70 of about 3,936 (170)

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

Sjogren-Larsson syndrome in dizygous twin sisters

, 1980
Two dizygous twin sisters with the Sjogren-Larsson syndrome are described. There was parental consanguinity, and the condition is inherited as an autosomal recessive. The main features are mental retardation, spastic diplegia and ichthyosis.
David, T. J.
core   +1 more source

Sjogren-Larsson syndrome: 2 case reports

, 2012
Sjogren-Larsson syndrome (SLS) is a neurocutaneous autosomal recessive disease caused by fatty aldehyde dehydrogenase (FADH) deficiency. This enzyme is involved in the biosynthesis pathways of some fatty acids, phytanic acid, and leukotrienes.
Bellavoine, V., Mlika, A., Wanders, R., Baruteau, J., Schiff, M., Ogier de Baulny, H., Galoin-Bertail, C., Benoist, G.   +7 more
core   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

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

Patients with Sjogren-Larsson syndrome lack macular pigment.

, 2010
Contains fulltext : 89820.pdf (Publisher’s version ) (Open Access)PURPOSE: Sjogren-Larsson syndrome (SLS), an autosomal recessive hereditary disorder with congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation ...
Willemsen, M.A.A.P., Veen, R.L. van der, Cruysberg, J.R.M., Fuijkschot, J., Cruysberg, J.R., Berendschot, T.T.J.M., Berendschot, T.T.J.M.; id_orcid, Berendschot, T.T., Willemsen, M.A., Theelen, T., van der Veen, R.L.   +10 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

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

Congenital heart block associated with Sjögren syndrome: case report

, 2009
Background: Congenital heart block is a rare complication of pregnancy associated with Sjögren Syndrome that may result in the death of the foetus or infant, or the need for pacing in the newborn or at a later stage.Case report: The case is presented of ...
Poate, Timothy W.J., Penelope J Shirlaw, Michael P Escudier, Shirlaw, Penelope J., Moutasim, Karwan A., Timothy WJ Poate, Escudier, Michael P., Karwan A Moutasim   +7 more
core   +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