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 +4 more
core +1 more source
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
Association between hypovitaminosis D and systemic sclerosis: True or fake? [PDF]
, 2016 Background: Vitamin D insufficiency/deficiency is considered a major factor triggering and enhancing several autoimmune disorders; hypovitaminosis D has been reported to be common in Systemic Sclerosis (SSc).
AGNELLO, Luisa +6 more
core +1 more source
Expanded carrier screening: A current perspective [PDF]
, 2018 Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb +12 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 +8 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
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 +4 more
wiley +1 more source
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 +6 more
core +1 more source
Analysis and update of the human aldehyde dehydrogenase (
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
Evaluación de la discapacidad en la infancia [PDF]
, 2012 En este trabajo se pretende analizar los recursos existentes para la evaluación de la discapacidad en la infancia en España, así como presentar el Inventario para la Evaluación Pediátrica de la Discapacidad (PEDI) y su versión española.
Guijo Blanco, Valeriana +1 more
core +1 more source