Results 51 to 60 of about 8,658 (196)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Integration of Genome-Wide SNP Data and Gene-Expression Profiles Reveals Six Novel Loci and Regulatory Mechanisms for Amino Acids and Acylcarnitines in Whole Blood. [PDF]

PLoS Genetics, 2015
Profiling amino acids and acylcarnitines in whole blood spots is a powerful tool in the laboratory diagnosis of several inborn errors of metabolism. Emerging data suggests that altered blood levels of amino acids and acylcarnitines are also associated ...
Ralph Burkhardt, Holger Kirsten, Frank Beutner, Lesca M Holdt, Arnd Gross, Andrej Teren, Anke Tönjes, Susen Becker, Knut Krohn, Peter Kovacs, Michael Stumvoll, Daniel Teupser, Joachim Thiery, Uta Ceglarek, Markus Scholz   +14 more
doaj   +1 more source

Association between mixed fatty acid emulsion and parenteral nutrition–associated cholestasis in extremely low‐birth‐weight infants: A retrospective cohort study

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background Soybean oil lipid emulsions have been implicated in the development of parenteral nutrition–associated cholestasis (PNAC) in premature infants. A recent mixed fatty acid emulsion containing soybean oil, medium‐chain triglycerides (MCTs), olive oil, and fish oil may reduce the incidence of PNAC, but evidence remains conflicting.
Tian Xie, Hongfang Mei, Mingyan Chen, Yanping Xu, Xiaolu Ma, Liping Shi, Zheng Chen   +6 more
wiley   +1 more source

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

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, Laura Strittmatter, Jessica Tardif, Rohit Sharma, Vanessa Tremblay-Vaillancourt, Chantale Aubut, Gabrielle Boucher, Clary B. Clish, Denis Cyr, Caroline Daneault, Paula J. Waters, Azadeh Aliskashani, Bruce G. Allen, Chantale Aubut, Claudine Beauchamp, Chantal Bemeur, Yan Burelle, Guy Charron, Lise Coderre, Christine Des Rosiers, Sonia Deschênes, François Labarthe, Jeannine Landry, Catherine Laprise, Geneviève Lavallée, Pierre Lavoie, Bruno Maranda, Charles Morin, Yvette Mukaneza, Tamiko Nishimura, John D. Rioux, Marie-Ève Rivard, Florin Sasarman, Eric A. Shoubridge, Jessica Tardif, Julie Thompson Legault, Nancy Tremblay, Vanessa Tremblay-Vaillancourt, Luc Vachon, Josée Villeneuve   +39 more
doaj   +1 more source

Electrokinetic Manipulations Combined With Direct and Ambient Ionization Mass Spectrometry

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Mass spectrometry (MS) is a powerful analytical technique that typically involves sample preparation and online analytical separation before MS detection. Traditional methods often face bottlenecks in sample preparation and analytical separation, despite the rapid detection capabilities of MS.
Nicholas E. Manicke, Lahiru Wedasingha, Magnus Rydberg   +2 more
wiley   +1 more source

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, Amruthavarshini Talikoti, Mireille Boutin   +2 more
doaj   +1 more source

Antithrombin: Deficiency, Diversity, and the Future of Diagnostics

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt, Christa M. Cobbaert, L. Renee Ruhaak   +2 more
wiley   +1 more source

Spectrum of Organic Aciduria Diseases in Tunisia: A 35-year Retrospective Study

Saudi Journal of Medicine and Medical Sciences
Background: 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, Fahmi Nasrallah, Emna Talbi, Mohamed Bassem Hammami, Rihab Ghodbane , Haifa Sanhaji , Moncef Feki, Naziha Kaabachi, Sameh Hadj-Taieb   +8 more
doaj   +1 more source

CD38‐Targeting Peptide Vaccine Ameliorates Aging‐Associated Phenotypes in Mice

Aging Cell, EarlyView.
Shangcheng Yu et al. revealed that CD38‐targeting peptide vaccine ameliorated aging‐associated physical and cognitive phenotypes in mice. CD38‐vaccine selectively depletes CD38+ myeloid cells, improves glucose tolerance, and enhances oxygen consumption.
Shangcheng Yu, Zhiqiang Li, Yuxiang Tang, Yuling Chen, Yingying Ma, Kunlin Du, Zhaoyun Zong, Kangze Feng, Yali Wei, Limeng Chen, Haiteng Deng   +10 more
wiley   +1 more source

Sophie Claiborne's Upset Stomach - an Ornithine Transcarbamoylase Deficiency Problem-Based Learning Case

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