Results 71 to 80 of about 2,303 (190)

Plenary Lecture 2: Milk and dairy produce and CVD: new perspectives on dairy and cardiovascular health [PDF]

, 2016
Cardiovascular diseases (CVD) are the leading cause of mortality and morbidity worldwide. One of the key dietary recommendations for CVD prevention is reduction of saturated fat intake.
de Souza, Ditte A. Hobbs, Givens, Jebb, Julie A. Lovegrove, Kleber, Qin   +6 more
core   +1 more source

Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature

Pediatric Dermatology, Volume 42, Issue 2, Page 305-310, March/April 2025.
ABSTRACT We describe a 1‐day old female with features of keratitis‐ichthyosis‐deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration.
Sarah Maarouf, Marie Clark, Anthony Chen, Anita Haggstrom   +3 more
wiley   +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

Disorders of fatty acid homeostasis

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl‐CoA, although some FA are solely derived from exogenous sources (“essential FA”). Once inside cells, FA may undergo a wide variety of different modifications, which include their activation to their corresponding CoA ester, the introduction of
Frédéric M. Vaz, Sacha Ferdinandusse, Gajja S. Salomons, Ronald J. A. Wanders   +3 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

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

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

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

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