Results 61 to 70 of about 12,610 (204)
Cells, 2022 Mitochondria are highly dynamic, double-membrane-enclosed organelles that sustain cellular metabolism and, hence, cellular, and organismal homeostasis.
Svenja Aline Keller, Alessandro Luciani
doaj +1 more source
Enamel defects and salivary methylmalonate in methylmalonic acidemia [PDF]
Oral Diseases, 2009 Introduction and objective: To characterize enamel defects in patients with methylmalonic acidemia (MMA) and cobalamin (cbl) metabolic disorders and to examine salivary methylmalonate levels in MMA.Subjects and methods: Teeth from patients (n = 32) were evaluated for enamel defects and compared with age‐ and gender‐matched controls (n = 55 ...
C W, Bassim +7 more
openaire +2 more sources
Stem Cell Research, 2022 Methylmalonic acidemia(MMA) is an autosomal recessive hereditary disease caused by methylmalonyl-CoA mutase defect or its coenzyme cobalamin metabolism defect.
Jing Luan +6 more
doaj +1 more source
Methylmalonic Acidemia – Matter Most Awaited!
Indian Journal of PediatricsSunita Bijarnia-Mahay
openaire +3 more sources
Journal of Inherited Metabolic Disease, 2023 Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl‐CoA mutase (MMUT) enzyme or the synthesis and transport of its cofactor, 5′‐deoxy‐adenosylcobalamin.
I. Manoli +15 more
semanticscholar +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations
International Journal of Neonatal Screening, 2022 Wisconsin’s newborn screening program implemented second-tier testing on specimens with elevated propionylcarnitine (C3) to aid in the identification of newborns with propionic and methylmalonic acidemias.
Patrice K. Held +2 more
doaj +1 more source
Journal of Ultrasound in Medicine, EarlyView.Objectives To evaluate the value of the thickness of the frontal lobe (TFL) and foramen magnum‐to‐cranium distance (FCD) for predicting poor neurodevelopmental outcomes in fetuses with a small head circumference (HC). Methods This retrospective observational study included 39 fetuses with HC < −2 standard deviations (SD) and 592 prospectively collected
Xi Du +8 more
wiley +1 more source
Renal growth in isolated methylmalonic acidemia [PDF]
Genetics in Medicine, 2013 We sought to predict renal growth based on clinical and metabolic parameters in patients with isolated methylmalonic acidemia, a group of disorders associated with chronic kidney disease.Fifty patients with methylmalonic acidemia, followed from 2004 to 2011, were classified by molecular genetics and studied using a combined cross-sectional and ...
Kruszka, Paul S. +4 more
openaire +2 more sources
The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, EarlyView.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source