Results 91 to 100 of about 174,613,300 (296)
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
Correlation between Hypoglycemia and Positive Rate of Inborn Error of Metabolism in Neonatal Intensive Care Unit [PDF]
, 2013 Objective: To investigate the correlation between hypoglycemia and positive rate of inborn error of metabolism (IEM) in neonatal intensive care unit. Methods: 160 patients from a neonatal intensive care unit were enrolled.
Li, Ying, He, Jian, Tu, Wen-jun
core +1 more source
Treatment of inborn errors of metabolism [PDF]
Molecular Cytogenetics, 2014 Inborn errors of metabolism (IEM), though individually rare are collectively common. Average incidence of 50+ common IEMs is considered to be approx 1 in 1,000 live births. With annual birth rate of approximately 25 million babies in India, we can expect at least 25,000 babies being born with IEM in India and hence it is a significant burden to the ...
openaire +2 more sources
Finding My Path: Listening, Learning, and Leading in Rare Disease: The 2025 Hower Award
Annals of the Child Neurology Society, EarlyView.
Andrea Gropman
wiley +1 more source
Neonatal seizures: Advances in diagnosis and management
Epilepsia Open, EarlyView.Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz +2 more
wiley +1 more source
When to consider an inborn error of metabolism : an approach to paediatric neurometabolic disorders [PDF]
, 2011 Neurological symptoms are commonly the presenting problem in many inborn errors of metabolism (IEM).
Smuts, Izelle, Riordan, G.T.
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Molecular Genetics and Metabolism ReportsThe current approach for investigating patients with suspected inborn errors of metabolism (IEMs) involves traditional targeted biochemical assays such as amino/organic acid analyses.
Rafael Garrett +5 more
doaj +1 more source
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 +5 more
wiley +1 more source
, 2016 Background: Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb).
FORMISANO, PIETRO +9 more
core
Epilepsia Open, EarlyView.Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Júlia Sala‐Coromina +21 more
wiley +1 more source