Antithrombin: Deficiency, Diversity, and the Future of Diagnostics
Mass Spectrometry Reviews, EarlyView.ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt +2 more
wiley +1 more source
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism. [PDF]
Tremor Other Hyperkinet Mov (N Y), 2023 Ortigoza-Escobar JD.
europepmc +1 more source
Sex‐specific white matter alterations in children exposed to high pregestational BMI
Obesity, EarlyView.Abstract Objective This study investigated whether exposure to high pregestational BMI (≥ 25 kg/m2) is associated with alterations in white matter microstructure in early childhood, explored sex‐specific effects, and examined associations with cognitive performance. Methods A total of 90 children from the Alberta Pregnancy Outcomes and Nutrition (APrON)
Samson Nivins +5 more
wiley +1 more source
High Myopia: A Pointer of an Inborn Error of Metabolism. [PDF]
Cureus, 2022 Sahu SK +7 more
europepmc +1 more source
Vaccination strategies for people living with inborn errors of metabolism in Brazil
Jornal de Pediatria, 2023 Objective: Through a literature review, make recommendations regarding immunizations in people living with Inborn Error of Metabolism (IEM) in Brazil, assess the possible impact on metabolic decompensations after immunization, and if this specific ...
Barbara C.F. Ramos +6 more
doaj
Red herrings and rotten fish [PDF]
arXiv, 2002 A longstanding problem in biology has been the origin of pervasive quarter-power allometric scaling laws that relate many characteristics of organisms to body mass (M) across the entire spectrum of life from molecules and microbes to ecosystems and mammals. In particular, whole-organism metabolic rate, B=aM^b, where a is a taxon-dependent normalisation
arxiv
Prenatal Diagnosis, EarlyView.ABSTRACT This manuscript summarises the debate held at the 2024 annual meeting of The International Society for Prenatal Diagnosis (ISPD). Experts discussed whether all fetuses undergoing fetal therapy should undergo exome sequencing. Arguments in favor included that, with increasing experience and better clinical availability, exome sequencing can ...
Teresa N. Sparks +2 more
wiley +1 more source
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria [PDF]
, 2019 Methylmalonic acidemia (MMA) is a propionate pathway disorder caused by dysfunction of the mitochondrial enzyme methylmalonyl-CoA mutase (MMUT). MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an anaplerotic reaction which feeds into ...
Baumgartner, Matthias R +6 more
core +1 more source
Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning [PDF]
, 2014 Background: Inborn errors of metabolism (IEM) form an important cause of movement disorders in children. The impact of metabolic diseases and concordant movement disorders upon children's health-related quality of life (HRQOL) and its physical and ...
Peall, Kathryn
core +1 more source
Inborn error of metabolism precipitated by COVID-19: challenges in the absence of an expanded newborn screening as state health programmes. [PDF]
BMJ Case Rep, 2022 Olety P, Safwan GM, Shenoy RD.
europepmc +1 more source