Results 191 to 200 of about 35,186 (239)

Unmasking inborn errors of immunity: identifying the red flags of immune dysregulation. [PDF]

Front Immunol
Cortesi M, Dotta L, Cattalini M, Lougaris V, Soresina A, Badolato R.   +5 more
europepmc   +1 more source

A Pilot Test of DNA-based Analysis Using Anonymized Newborn Screening Cards in Iowa [PDF]

, 1998
Anderson, Jeannette, Getchell, Jane, Lysaught, M. Therese, Milhollin, Lisa, Murray, Jeffrey C., Peirce, Ryan, Rhead, William, Susanin, Jan   +7 more
core   +1 more source

Practical management of repeated life‐threatening status epilepticus in Alternating Hemiplegia of Childhood: Case report and literature review

Epileptic Disorders, EarlyView.
Abstract Background Alternating Hemiplegia of Childhood (AHC) is a severe channelopathy that manifests before 18 months of age, primarily caused by pathogenic variants in the ATP1A3 gene. It is characterized by recurrent and disabling episodes of plegia, dystonia, dysautonomia, along with chronic neurological features and cardiac arrhythmias. About 50%
Ramona Cordani, Livia Pisciotta, Michela Stagnaro, Maria Margherita Mancardi, Elisabetta Lampugnani, Luca Manfredini, Lino Nobili, Edvige Veneselli, Elisa De Grandis   +8 more
wiley   +1 more source

Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond. [PDF]

J Clin Immunol
Beyls E, Duthoo E, Backers L, Claes K, RAPID Clinicians, De Bruyne M, Pottie L, Bordon V, Bonroy C, Tavernier SJ, Claes KBM, Vral A, Baeyens A, Haerynck F.   +13 more
europepmc   +1 more source

Mental Health Across the Metabolic Spectrum. [PDF]

Biol Psychiatry Glob Open Sci
Saxena V, Marin-Valencia I.
europepmc   +1 more source

Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis

ESC Heart Failure, EarlyView.
Violette Goetz, Bruno Lefort, Magalie Barth, Naïg Gueguen, Céline Bris, Emmanuelle Blanchard, Isabelle Benz‐de Bretagne, Hélène Blasco, Marine Tardieu, François Labarthe   +9 more
wiley   +1 more source

Patients with rare diseases are responsible for the majority of hospitalizations in a Brazilian tertiary pediatric hospital: Preliminary data. [PDF]

Clinics (Sao Paulo)
Grassiotto C, Pavani S, Cavalcanti NV, Gonçalves A, Watanabe A, Odone-Filho V, Tannuri ACA, Silva CAA, Carneiro-Sampaio M.   +8 more
europepmc   +1 more source

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

Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding-A Comprehensive Review. [PDF]

Diagnostics (Basel)
Mastromoro G, Guadagnolo D, De Luca A, Rongioletti MCA, Pizzuti A.   +4 more
europepmc   +1 more source

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

Epilepsia Open, EarlyView.
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza, Greta Volpedo, Antonella Riva, Pasquale Striano, Annamaria Vezzani   +4 more
wiley   +1 more source