Results 101 to 110 of about 198,582 (348)
Animal Models and Experimental Medicine, EarlyView.Though the Leprdb/db mouse is a common and well‐studied model of type II diabetes mellitus, there are a few specific guidelines for its husbandry, and wound complications are common. We present a modified husbandry approach for the Leprdb/db mouse that includes increased cage size, decreased housing density, and more frequent cage changes.
May Barakat +6 more
wiley +1 more source
Clinical Spectrum of Inborn Errors of Metabolism in Children in a Tertiary Care Hospital [PDF]
, 2020 INTRODUCTION: Inborn errors of metabolism are the hereditary diseases which occurs due to disturbances in normal biochemical process. Although individual diseases are rare, they collectively cause significant amount of morbidity and mortality.
Jayashree, K R
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The Anatomical Record, EarlyView.Abstract Testudines are one of the best‐represented taxonomic groups among the Paleogene taxa of the Duero Basin (Castile and Leon Autonomous Community, central Spain). Among them, Neochelys (Podocnemidide) and Allaeochelys (Carettochelyidae) are most abundant, allowing the population to be assessed for osteological anomalies.
Andrea Guerrero +3 more
wiley +1 more source
Inborn errors of metabolism (IEM): a general overview [PDF]
, 2011 This issue of eMedRef provides information to clinicians on the pathophysiology, diagnosis, and therapeutics of inborn errors of ...
Ritenuti, Michel
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Circulation Research, 2017 The normal function of the human myocardium requires the proper generation and utilization of energy and relies on a series of complex metabolic processes to achieve this normal function.
J. Towbin, J. Jefferies
semanticscholar +1 more source
CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies
WIREs Mechanisms of Disease, Volume 15, Issue 1, January/February 2023., 2023 CRISPR‐Cas9 gene‐editing technology enables the rapid generation of animal models for Duchenne muscular dystrophy research and has potential to be developed as CRISPR therapy for the long lasting genetic correction of causal mutations. Abstract CRISPR gene‐editing technology creates precise and permanent modifications to DNA.
Yu C. J. Chey +4 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2020 Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism.
S. Pajares +13 more
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Molecular Genetics & Genomic Medicine, 2023 Background Phenylketonuria (PKU) is an autosomal recessive disease resulting from a deficiency of the enzyme phenylalanine hydroxylase (PAH). Hyperphenylalaninemias (HPA) due to PAH deficiency are accompanied by a wide variety of clinical, biochemical ...
Pedro E. Bonfim‐Freitas +3 more
doaj +1 more source
Frontiers in Genetics, 2018 The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment
Kejian Guo +5 more
semanticscholar +1 more source
Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients
Molecular Genetics and Metabolism Reports, 2019 Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit normal
Yvan Herenger +7 more
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