Results 71 to 80 of about 19,497 (183)
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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Not So Rare: Errors of Metabolism during the Neonatal Period
, 2003 During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
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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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Molecular Genetics & Genomic Medicine, 2023 Background The incidence of inborn errors of metabolism (IEM) varies across countries and areas. Currently, there are no studies on IEM using newborn screening (NBS) in eastern coastal areas of China.
Shuai Men +8 more
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Asian Journal of Medical Sciences, 2018 Background: Phenylketonuria, commonly known as PKU, is an inherited disorder in which there is an abnormally elevated blood level of the amino acid phenylalanine leading to several pathologies affecting multiple organs including the central nervous ...
Ahmed Al-Imam
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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. [PDF]
, 2020 CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without
Barea, Jaime J +10 more
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Astrocyte glutamine synthetase : pivotal in health and disease [PDF]
, 2013 The multifunctional properties of astrocytes signify their importance in brain physiology and neurological function. In addition to defining the brain architecture, astrocytes are primary elements of brain ion, pH and neurotransmitter homoeostasis.
Parpura, Vladimir +2 more
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Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans
Cell Reports, 2019 Summary: Inborn errors of metabolism (IEMs) link metabolic defects to human phenotypes. Modern genomics has accelerated IEM discovery, but assessing the impact of genomic variants is still challenging.
Min Ni +22 more
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Molecular Genetics and Metabolism Reports, 2017 Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments.
J. Pérez-López +9 more
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Hyperammonemia-induced toxicity for the developing central nervous system [PDF]
, 2007 In pediatric patients, hyperammonemia can be caused by various acquired or inherited disorders such as urea cycle deficiencies or organic acidemias. The brain is much more susceptible to the deleterious effects of ammonium during development than in ...
Braissant, O., Cagnon, L.
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