Results 61 to 70 of about 2,293 (174)

Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation

The Turkish Journal of Pediatrics, 2012
Sjögren-Larsson syndrome is an autosomal recessive neurocutaneous disease caused by mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, a microsomal enzyme that catalyzes the oxidation of medium- and long-chain aliphatic aldehydes ...
Uluç Yiş, Allesandro Terrinoni
doaj  

Niet-infectieuze oorzaken van biggensterfte vóór het spenen, deel 2: oorzaken gelegen bij de zeug en in de omgeving [PDF]

, 2009
Piglet mortality before weaning is an important cause of economic loss in the pig production. Most piglet mortality occurs during the first four days after birth, and the major part is caused by non-infectious conditions.
de Kruif, Aart, Dewulf, Jeroen, Loncke, Renée, Maes, Dominiek, Vanderhaeghe, Caroline   +4 more
core   +1 more source

Dairy food products: good or bad for cardiometabolic disease? [PDF]

, 2016
Prevalence of type 2 diabetes mellitus (T2DM) is rapidly increasingly and is a key risk for CVD development, now recognised as the leading cause of death globally.
Al-Delaimy, Alonso, Appleby, Azadbakht, Bates, Beydoun, Chen, D. Ian Givens, FitzGerald, Frid, Hellstrand, Hu, Julie A. Lovegrove, Mensink, Nilsson, Petyaev, Qin, Saleheen, Sjogren, Snijder, Tholstrup, van der Pols, Yoo, Östman   +23 more
core   +1 more source

Oral Manifestations in the Post COVID‐19 Condition: A Systematic Review With Meta‐Analysis

Reviews in Medical Virology, Volume 35, Issue 4, July 2025.
ABSTRACT Post‐COVID‐19 condition, or Long COVID, is characterised by symptoms persisting or emerging beyond 12 weeks after acute infection. Among over 200 reported symptoms, oral manifestations such as taste loss and dry mouth have been identified. This systematic review reports the frequency and characteristics of these symptoms.
Letícia Simeoni Avais, Elis Carolina Pacheco, Luisa Pereira de Oliveira Zanetti Gomes, Márcia Helena Baldani, Camila Marinelli Martins, Eliseu Alves Waldman, Jean Paul J. Gonzalez, Tomoko Y. Steen, Pollyanna Kássia de Oliveira Borges   +8 more
wiley   +1 more source

Neuroichthyosis With a De Novo Variant c.494C>T in ELOVL1 and Severe Pruritus Relieved by Dupilumab

Pediatric Dermatology, Volume 42, Issue 4, Page 844-848, July/August 2025.
ABSTRACT We report a patient with neuroichthyosis with an ELOVL1 variant associated with severe pruritus who responded well to dupilumab therapy. Our case is the third known patient reported with this de novo heterozygous dominant variant. The feature of severe progressive pruritus greatly impairing quality of life is unique among these reports.
Danielle Marcoux, Sophie‐Anne Savard, Victor Kokta, Elsa Rossignol, Luis H. Ospina   +4 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

Sjögren Larsson syndrome: A case study with unique mutation

Brain Disorders
Background: Sjogren–Larsson syndrome (SLS) is an autosomal recessive disorder characterized by the triad of ichthyosis, intellectual disability, and spastic quadriplegia or diplegia.
Raidah Albaradie, Dana Aljamea, Deeba Noreen Baig, Shahid Bashir   +3 more
doaj   +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