Results 61 to 70 of about 17,668 (251)

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria

Journal of Lipid Research, 1999
3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL, E.C. 4.1.3.4) has a unique dual localization in both mitochondria and peroxisomes. Mitochondrial HL (~31.0 kDa) catalyzes the last step of ketogenesis; the function of peroxisomal HL (~33.5 kDa) is unknown.
Lyudmila I. Ashmarina, Alexey V. Pshezhetsky, Steven S. Branda, Grazia Isaya, Grant A. Mitchell   +4 more
doaj   +1 more source

Evaluation of Genetic Causes of Cardiomyopathy in Childhood [PDF]

, 2015
Cardiomyopathy frequently has a genetic basis. In adults, mutations in genes encoding components of the sarcomere, cytoskeleton, or desmosome are frequent genetic causes of cardiomyopathy.
Ware, Stephanie M.
core   +1 more source

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, EarlyView.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China [PDF]

PeerJ
To determine the disease spectrum and genetic characteristics of inborn errors of metabolism (IEM) in Xinjiang province in the northwest of China, 41,690 newborn babies were screening by tandem mass spectrometry from November 2018 to December 2021.
Jingying Zhu, Li Han, Pingjingwen Yang, Ziyi Feng, Shuyuan Xue   +4 more
doaj   +2 more sources

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

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

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

Chromosome‐scale genome assembly of the South American fruit fly, Anastrepha fraterculus sp.1

Insect Science, EarlyView.
Anastrepha fraterculus sp. 1 is a major fruit fly pest in Argentina, currently controlled through chemical treatments and traps. This study aims to enhance the genomic understanding of this species to support the development of sterile insect technique as well as the use of innovative technologies.
Máximo Rivarola, Claudia A. Conte, Pierre Berube, Shu‐Huang Chen, M. Cecilia Giardini, Alejandra C. Scannapieco, Fabián H. Milla, María C. Soria, Romina M. Russo, Juan P. Wulff, Haig H. Djambazian, Rolando R. Pomar, Alfred M. Handler, Kostas Bourtzis, Ioannis Ragoussis, Silvia B. Lanzavecchia   +15 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