Results 61 to 70 of about 585 (187)

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

Amino Acids and Inherited Amino Acid-Related Disorders

, 2018
Amino acids perform multiple essential physiological roles in humans, and accordingly, their importance to health has been the subject of extensive attention.
Bernstein, Laurie, O’Sullivan, Siobhan, Ellen Crushell, Jörn Oliver Sass, Laurie Bernstein, Siobhan O’Sullivan, Knerr, Ina, Sass, Jörn Oliver, Crushell, Ellen, Ina Knerr   +9 more
core   +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

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 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

Contributions of amino acid, acylcarnitine and sphingolipid profiles to type 2 diabetes risk among South-Asian Surinamese and Dutch adults [PDF]

, 2020
Introduction: People of South Asian origin are at high risk of type 2 diabetes (T2D), but the underpinning mechanisms are not fully understood. We determined ethnic differences in acylcarnitine, amino acid and sphingolipid concentrations and determined
van Valkengoed, Irene G.M., Goorden, Susan M. I., van Valkengoed, Irene G. M., Gill, Jason M.R., Vaz, Frédéric M., Ghauharali-van der Vlugt, Karen, Beers-Stet, Femke S., Gill, Jason M. R., Muilwijk, Mirthe, Goorden, Susan M.I., Celis-Morales, Carlos, Hof, Michel H.   +11 more
core   +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

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

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source