Results 51 to 60 of about 2,017,541 (209)
Orphanet Journal of Rare Diseases, 2023 Background Inherited metabolic disorders (IMDs) usually occurs at young age and hence it severely threatening the health and life of young people. While so far there lacks a comprehensive study which can reveals China’s nationwide landscape of IMDs. This
Beibei Zhao +8 more
doaj +1 more source
25 Years of Newborn Screening in Uruguay
Journal of Inborn Errors of Metabolism and Screening, 2021 In the 1960s Guthrie conceived the idea of preventing congenital disease using dried blood spot samples on filter paper to detect them through biochemical tests and then be able to treat environmental factors in time to avoid the devastating effect of ...
Cecilia Queijo, A. Lemes, G. Queiruga
doaj +1 more source
Prevalence of neurometabolic diseases in Saudi Arabia
Journal of Biochemical and Clinical Genetics, 2020 Neurometabolic disorders are most often seen in newborns and infants and have come to be recognized as an important group of disorders. Understanding diagnostic and therapeutic developments in neurometabolic disorders requires a concrete understanding of
Mohammed Almuqbil
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Renal replacement therapy in neonates with an inborn error of metabolism [PDF]
Korean Journal of Pediatrics, 2019 Hyperammonemia can be caused by several genetic inborn errors of metabolism including urea cycle defects, organic acidemias, fatty acid oxidation defects, and certain disorders of amino acid metabolism.
Heeyeon Cho
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2022 With the execution of expanded newborn screen (NBS) program nationwide, it is uncommon to see severe hyperammonemia associated with isovaleric acidemia (IVA). We present a seven-day-old boy with severe IVA complicated by hyperammonemia.
Anne Chun-Hui Tsai +6 more
doaj +1 more source
Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria. [PDF]
, 2016 Using 3D organotypic rat brain cell cultures in aggregates we recently identified 2-methylcitrate (2-MCA) as the main toxic metabolite for developing brain cells in methylmalonic aciduria.
Ballhausen, D. +8 more
core +1 more source
Biomarkers for Drug Development in Propionic and Methylmalonic Acidemias [PDF]
, 2022 There is an unmet need for the development and validation of biomarkers and surrogate endpoints for clinical trials in propionic acidemia (PA) and methylmalonic acidemia (MMA).
Jurecka, Agnieszka +3 more
core +1 more source
Foetal Cardiac Function in Early Labour and Intrapartum Outcomes: A Prospective Observational Study
BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.ABSTRACT Objective To assess foetal myocardial deformation in normo‐oxygenated foetuses in early labour and its relationship with intrapartum outcomes. Design Single centre prospective study. Setting Referral tertiary maternity unit. Population Uncomplicated singleton term pregnancies in early labour.
Andrea Dall'Asta +7 more
wiley +1 more source
Cost-effectiveness analysis of newborn screening for organic acidemias in Hong Kong [PDF]
, 2016 published_or_final_versio
Johnston, JM, Mak, CM, Ng, VHL
core
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