Results 51 to 60 of about 17,115 (162)
Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome. [PDF]
, 2019 Although developmental delays affect learning, language, and behavior, some evidence suggests the presence of disturbances in metabolism are associated with psychiatric disorders.
Abbeduto, Leonard +3 more
core +1 more source
Cell Reports, 2015 A decline in mitochondrial respiration represents the root cause of a large number of inborn errors of metabolism. It is also associated with common age-associated diseases and the aging process.
Julie Thompson Legault +39 more
doaj +1 more source
Metabolomics of dietary fatty acid restriction in patients with phenylketonuria [PDF]
, 2012 Patients with phenylketonuria (PKU) have to follow a lifelong phenylalanine restricted diet. This type of diet markedly reduces the intake of saturated and unsaturated fatty acids especially long chain polyunsaturated fatty acids (LC-PUFA).
Berthold Koletzko +10 more
core +3 more sources
A 3-Step Process to Estimate Phenylalanine in Commercial Foods for PKU Management
IEEE Access, 2018 Phenylalanine (Phe) is a key nutrient in the dietary management of the metabolic disease phenylketonuria (PKU). To give more freedom to PKU patients, we propose a numerical process to estimate the Phe content of a commercial food using the information ...
Jieun Kim +2 more
doaj +1 more source
Spectrum of Organic Aciduria Diseases in Tunisia: A 35-year Retrospective Study
Saudi Journal of Medicine and Medical SciencesBackground: Organic aciduria diseases (OADs) occur worldwide, with differences in prevalence and patterns between populations. Objectives: To describe the spectrum of OADs identified in Tunisia over a 35-years period.
Awatef Jelassi +8 more
doaj +1 more source
Newborn Urinary Metabolic Signatures of Prematurity and Other Disorders: A Case Control Study [PDF]
, 2001 This work assesses the urinary metabolite signature of prematurity in newborns by nuclear magnetic resonance (NMR) spectroscopy, while establishing the role of possible confounders and signature specificity, through comparison to other disorders.
Sílvia O. Diaz +13 more
core +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
doaj +1 more source
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
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
doaj +1 more source
Progeny, December 2003, Vol. 19, no. 4 [PDF]
, 2003 This newsletter from The Department of Public Health about perinatal health care and ...
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