Results 91 to 100 of about 167,513,957 (289)

Serum methylmalonic acid levels and epilepsy prevalence: Association analysis, exploratory mediation, and clinical corroboration

Epileptic Disorders, EarlyView.
Abstract Objective This study aimed to investigate the association between methylmalonic acid (MMA) and epilepsy prevalence and to explore potential inflammatory and nutritional pathways underlying this association. Methods This study included adults aged ≥ 20 years from the National Health and Nutrition Examination Survey (NHANES) 2011–2014.
Ningyu Wei, Ning Huang, Haipeng Chen, Rui Tang, Yuan Cheng, Xiang Zhang   +5 more
wiley   +1 more source

Evaluation of the CRISPR/Cas9 system as genome editing platform for the Mucopolysaccharidosis IV A using a strategy for induction of higher homologous recombination frequency

Universitas Scientiarum
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the hydrolase N-acetylgalactose-6-sulfate sulfatase (GALNS). GALNS deficiency leads to a progressive buildup of partially degraded chondroitin-
Diego Alejandro Suarez, Andrés Felipe Leal, Carlos Javier Alméciga Díaz   +2 more
doaj   +1 more source

Inborn Errors of Metabolism

, 2017
Until now, most studies on the pathophysiological mechanisms of inborn errors of metabolism have almost exclusively focused on the measurement of concentrations of different metabolites in plasma, urine, or cerebrospinal fluid.
Frits A. Wijburg, Ronald J.A. Wanders, Wanders, Ronald J.A., Hidde H. Huidekoper, Huidekoper, Hidde; id_orcid, Wijburg, Frits A.   +5 more
core   +1 more source

The effect of antiseizure medications on the exposure to combined oral contraceptives: A systematic review and network meta‐analysis

Epileptic Disorders, EarlyView.
Abstract Objective Current recommendations for prescribing combined oral contraceptives (COCs) to people with epilepsy are often conflicting, particularly for weak inducers of cytochrome P450 3A4. We aimed to critically review the literature and compare the antiseizure medication (ASM)‐induced changes in exposure to COC components.
Hagar Cohen, Amnah Omar Mahajna, Tomer Ben‐Shushan, Ilan Matok, Sara Eyal   +4 more
wiley   +1 more source

Most Frequently Encountered Inborn Errors of Metabolism

, 2023
Inborn errors of metabolism are inherited conditions that block metabolic pathways. Despite major advances in our ability to diagnose these conditions, difficulties remain.
Alallah, Jubara, Agrawal, Pankaj B., Maheshwari, Akhil, Dendi, Alvaro   +3 more
core   +1 more source

Raising resilience: A parenting intervention for families affected by childhood epilepsy

Epilepsia, EarlyView.
Abstract Objective Despite behavioral concerns reported among children with epilepsy, evidence‐based family‐focused interventions designed for this population remain limited. The objectives of this study were to characterize behavioral concerns and parent mental health needs in families of children with epilepsy relative to children with non‐epileptic ...
Samantha J. Feldman, Bianca C. Bondi, Chantal C. Cheung, Heather Olivieri, Tricia S. Williams   +4 more
wiley   +1 more source

Automated Screening for Three Inborn Metabolic Disorders: A Pilot Study [PDF]

, 2006
Background: Inborn metabolic disorders (IMDs) form a large group of rare, but often serious, metabolic disorders. Aims: Our objective was to construct a decision tree, based on classification algorithm for the data on three metabolic disorders, enabling ...
N Rao, Ananth, Sarbadhikari SN, S N, Sarbadhikari, Kavitha S, Ananth N Rao, S, Kavitha   +5 more
core  

Tests for Suspected Inborn Errors of Metabolism

, 1995
The initial laboratory assessment of infants and children with suspected inborn errors of metabolism (IEM) is reviewed by the Department of Medical Genetics, Mayo Clinic, Rochester ...
J Gordon Millichap
core   +1 more source

Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening

, 2023
<p>Objective: Pathologic results in expanded metabolic screening tests may be due to the medications, inappropriate sampling methods, or the maternal originated inborn errors of metabolism.
Oguzhan Tin, Tanyel Zubarioglu, Tin, Oguzhan, Cansever, Mehmet Serif, Cigdem Aktuglu-Zeybek, Zuebarioglu, Tanyel, Aktuglu-Zeybek, Cigdem, Mehmet Serif Cansever, Ertugrul Kiykim, Kiykim, Ertugrul   +9 more
core   +1 more source

How should etiology change the classification of the epilepsies? Report from the ILAE 2021–2025 Terminology Commission

Epilepsia, EarlyView.
Abstract The classification of the epilepsies has traditionally relied on clinical and electroencephalographic features. However, advancements in molecular genetics, neuroimaging, and our understanding of epilepsy pathophysiology necessitate a shift toward an etiology‐based approach.
Nicola Specchio, Stéphane Auvin, Francesca Bisulli, Scott Demarest, Elena Gardella, Angelina Kakooza Mwesige, Rima Nabbout, Alshimaa S. Othman, Kollencheri Puthenveettil Vinayan, Robyn Whitney, Elaine Wirrell, Hideo Yamanouchi, Ji Yeoun Yoo, Sameer M. Zuberi, J. Helen Cross, Ingrid E. Scheffer   +15 more
wiley   +1 more source