Results 71 to 80 of about 4,590,707 (207)
Inborn errors of amino acid metabolism – from underlying pathophysiology to therapeutic advances
Disease Models & Mechanisms, 2023 Shira G. Ziegler +3 more
doaj +1 more source
Nutritional Management of Patients with Inborn Errors of Metabolism
Inborn errors of metabolism (IEM) are a large group of single-gene disorders resulting from enzyme defects in biochemical and metabolic pathways [...
Isidro Vitoria, María-Luz Couce
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Liver transplantation for inborn errors of liver metabolism.
, 2006 Liver transplantation brings complete recovery from end-stage liver disease, and full correction of liver based inborn errors of ...
Efienne M. Sokal, Sokal, Etienne
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Update on Neuropathies in Inborn Errors of Metabolism
, 2021 Neuropathies are relatively common in inborn errors of metabolism (IEMs); however, due to the early onset and severe, progressive course of many IEMs, they have not been very well researched yet.
Renata Pająk +3 more
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Advances in Cytosolic dsRNA Sensing of Viral Infections
Immunology &Cell Biology, EarlyView.Activation of cytosolic dsRNA sensors by viral infection generates multiple outcomes. dsRNA generated during viral infection, either of viral origin or from endogenous sources, can activate multiple cytosolic dsRNA sensors. Activation of PKR critically induces protein translation shutdown via phosphorylation of eukaryotic translation initiation factor ...
Sofia Maceratessi, Natalia G. Sampaio
wiley +1 more source
MedEdPORTAL, 2007 This resource is a problem-based learning (PBL) case featuring a female patient who has problems with food containing protein. As the case progresses it becomes evident that there is a problem handling any quantity of protein and that this problem may be
Marshall Anderson, Mary Kirkish
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Journal of Phycology, EarlyView.Abstract The sugar kelp Saccharina latissima is a promising candidate for sustainable aquaculture in the North Atlantic and Northeast Pacific, but genetic improvement has been hindered by a limited understanding of the genetic basis of economically important traits.
Stéphane Mauger +15 more
wiley +1 more source
GC-MS METHODS FOR AMINO ACIDS DETERMINATION IN DIFFERENT BIOLOGICAL EXTRACTS
Studia Universitatis Babes-Bolyai Chemia, 2016 Sensitive, precise and accurate analytical methods for free amino acids determination in biological samples were developed. Purification by ion exchange technique was followed by two steps derivatization method to obtain trifluoroacetyl ester ...
Monica CULEA +4 more
doaj
Frontiers in Cell and Developmental Biology, 2016 Peroxisomes are unique subcellular organelles which play an indispensable role in several key metabolic pathways which include: (1.) etherphospholipid biosynthesis; (2.) fatty acid beta-oxidation; (3.) bile acid synthesis; (4.) docosahexaenoic acid (DHA)
Ronald J.A. Wanders +2 more
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Integrative approaches for the diagnosis of inborn errors of metabolism
, 2019 Inborn errors of metabolism (IEM) are a group of inherited genetic disorders affecting Human metabolism. Several examples will be presented illustrating the integration of the diagnostic approaches for different disease groups.info:eu-repo/semantics ...
Rocha, H.
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