Results 61 to 70 of about 7,958 (196)
A Practical Guide to Genetic Eye Conditions for Paediatricians
Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin +5 more
wiley +1 more source
Annals of Indian Academy of Neurology, 2015 Aims: To find out the prevalence and types of neurological abnormalities associated in auditory neuropathy spectrum disorder in a large tertiary referral center.
Anjali Lepcha +5 more
doaj +1 more source
The Effects of the Type and Timing of Dietary Folate on Memory, Learning, and Gene Expression in Mice [PDF]
, 2018 Folate has been known as an important vitamin for several decades. It is vital in development and epigenetics and is especially known for its involvement in the prevention of neural tube defects in newborns.
Schreiner, Caleb
core +1 more source
Maternal BMI as a predictor of methylation of obesity-related genes in saliva samples from preschool-age Hispanic children at-risk for obesity. [PDF]
, 2017 BackgroundThe study of epigenetic processes and mechanisms present a dynamic approach to assess complex individual variation in obesity susceptibility. However, few studies have examined epigenetic patterns in preschool-age children at-risk for obesity ...
Barkin, Shari L +4 more
core +2 more sources
JIMD Reports, Volume 66, Issue 5, September 2025.ABSTRACT We report the case of an 11‐year‐old girl who developed hepatopulmonary syndrome (HPS) as a rare complication of Zellweger spectrum disorder and was successfully treated with liver transplantation. Our patient presented with neonatal sensorineural hearing loss.
Riya Mary Tharakan +2 more
wiley +1 more source
Phytanic acid activation in rat liver peroxisomes is catalyzed by long-chain acyl-CoA synthetase
Journal of Lipid Research, 1996 In Refsum disease, disorders of peroxisome biogenesis, and rhizomelic chondrodysplasia punctata, pathological accumulation of phytanic acid results from impaired alpha-oxidation of this branched-chain fatty acid.
P A Watkins +4 more
doaj +1 more source
Serum S-adenosylmethionine, but not methionine, increases in response to overfeeding in humans [PDF]
, 2016 Background: Plasma concentration of the methyl donor S-adenosylmethionine (SAM) is linearly associated with body mass index (BMI) and fat mass. As SAM is a high-energy compound and a sensor of cellular nutrient status, we hypothesized that SAM would ...
Elshorbagy, A. +4 more
core +1 more source
A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT The concept of IMDs has evolved over a century from rare deficits in amino acid catabolism diagnosed by the accumulation of biochemical markers such as phenylketonuria (PKU) to diseases affecting organelle metabolism, synthesis of complex molecules, and cellular trafficking.
Jean‐Marie Saudubray, Manuel Schiff
wiley +1 more source
Total plasmatic homocysteine and von Willebrand factor in experimental diabetes mellitus [PDF]
, 2007 OBJECTIVES: To determine the plasma homocysteine and von Willebrand factor levels as markers of endothelial dysfunction in rats with diabetes mellitus induced by streptozotocin.
Conceição, Gleice Margarete de Souza [UNIFESP] +4 more
core +3 more sources
Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience
Clinical Case Reports, Volume 13, Issue 2, February 2025.ABSTRACT Galactosemia is a rare autosomal recessive metabolic disorder with four main types, and classic galactosemia is the most prevalent. These patients have galactose‐1‐phosphate‐uridyltransferase deficiency. We report on a case of an infant who was admitted with poor feeding, lethargy, and poor weight gain.
Mohammadreza Alaee +4 more
wiley +1 more source