Results 31 to 40 of about 198,582 (348)
Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
Medicina, 2021 Methylmalonic aciduria is treated with a natural protein-restricted diet with adequate energy intake to sustain metabolic balance. Natural protein is a source of methylmalonic acid precursors, and intake is individually modified according to the severity
Agnieszka Kowalik +2 more
doaj +1 more source
Inborn errors of metabolism in the differential diagnosis of fatty liver disease.
The Turkish Journal of Gastroenterology, 2020 Nonalcoholic fatty liver disease (NAFLD) has become the most common chronic liver disease across all age groups. Obesity, diabetes, and metabolic syndrome, are the primary causes that are closely linked with the development of NAFLD.
Yılmaz Yıldız, H. Sivri
semanticscholar +1 more source
Common 'Inborn Errors' of Metabolism in the General Population [PDF]
, 2021 Inborn errors of metabolism (IEMs) are a group of disorders characterised by the toxic accumulation or deficiency of circulating molecules (‘metabolites’) caused by rare genetic mutations.
Au Yeung, Victoria
core +1 more source
Lipopolysaccharide‐Induced Bone Loss in Rodent Models: A Systematic Review and Meta‐Analysis
Journal of Bone and Mineral Research, Volume 38, Issue 1, Page 198-213, January 2023., 2023 ABSTRACT Osteoporosis has traditionally been characterized by underlying endocrine mechanisms, though evidence indicates a role of inflammation in its pathophysiology. Lipopolysaccharide (LPS), a component of gram‐negative bacteria that reside in the intestines, can be released into circulation and stimulate the immune system, upregulating bone ...
Kirsten N. Bott +6 more
wiley +1 more source
Scientific Reports, 2017 Previously, we demonstrated production of an active recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS) enzyme in Escherichia coli as a potential therapeutic alternative for mucopolysaccharidosis IVA.
Luis H. Reyes +4 more
doaj +1 more source
The large-scale organization of metabolic networks [PDF]
Nature, v407 651-654 (2000), 2000 In a cell or microorganism the processes that generate mass, energy, information transfer, and cell fate specification are seamlessly integrated through a complex network of various cellular constituents and reactions. However, despite the key role these networks play in sustaining various cellular functions, their large-scale structure is essentially ...
arxiv +1 more source
A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders
Frontiers in Neurology, 2020 Inherited metabolic diseases or inborn errors of metabolism frequently manifest with both hyperkinetic (dystonia, chorea, myoclonus, ataxia, tremor, etc.) and hypokinetic (rigid-akinetic syndrome) movement disorders. The diagnosis of these diseases is in
J. Ortigoza‐Escobar
semanticscholar +1 more source
BMC Pediatrics, 2021 Background Most white matter diseases present on magnetic resonance imaging as focal or diffuse T2-hyperintensities. However, in a few of them, radially oriented stripes of low (relatively normal) signal intensity are observed within diffusely affected ...
Monika Bekiesinska-Figatowska +5 more
doaj +1 more source
Gene therapy for inborn errors of liver metabolism: progress towards clinical applications [PDF]
, 2008 The treatment for inborn errors of liver metabolism is based on dietary, drug, and cell therapies (orthotopic liver transplantation). However, significant morbidity and mortality still remain, and alternative strategies are needed.
Brunetti-Pierri, Nicola
core +3 more sources
Rare and common genetic determinants of metabolic individuality and their effects on human health [PDF]
, 2022 Garrod’s concept of ‘chemical individuality’ has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale.
Arlt, W +35 more
core +3 more sources