Results 121 to 130 of about 3,183 (188)
Advanced Science, Volume 12, Issue 11, March 20, 2025.Endothelial‐mesenchymal transition (EndoMT) causes pulmonary vascular remodeling in a murine model of bronchopulmonary dysplasia‐associated pulmonary hypertension. Endothelial reduction of carnitine palmitoyltransferase 1a (Cpt1a) is identified as a novel mechanism of lung EndoMT.
Xiaoyun Li +14 more
wiley +1 more source
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]
, 2016 BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben +8 more
core +1 more source
Plasma Pyridoxal 5´-Phosphate Level in Children with Intractable and Controlled Epilepsy [PDF]
Objective Intractable epilepsy is a serious neurologic problem with different etiologies. Decreased levels of pyridoxal phosphate in cerebral spinal fluid of patients with intractable epilepsy due to pyridoxine dependency epilepsy are reported.
Ghofrani, Mohammad +2 more
core
Metabolische Epilepsien mit spezifischen Therapieoptionen: Diagnostischer Leitfaden [PDF]
, 2018 Zusammenfassung: Bei therapieresistenten Anfällen müssen, unabhängig vom jeweiligen Lebensalter, angeborene Stoffwechselerkrankungen erwogen werden.
Plecko, B.
core
Expanded carrier screening: A current perspective [PDF]
, 2018 Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb +12 more
core +1 more source
Frontiers in Pediatrics, 2019 Purpose: To evaluate the effects of a single oral dose of pyridoxine on lysine metabolites including α-aminoadipic semialdehyde (a-AASA), piperideine-6-carboxylate (P6C), the sum of AASA and P6C (AASA-P6C), pipecolic acid (PA), and α-aminoadipic acid (α ...
Junjuan Wang +13 more
doaj +1 more source
Embracing the future: Neonatal screening for epileptic syndromes
Epilepsia, Volume 66, Issue 6, Page 1843-1853, June 2025.
Rima Nabbout, Mathieu Kuchenbuch
wiley +1 more source
Pyridoxine dependent epilepsies: new therapeutical point of view
Italian Journal of Pediatrics, 2017 Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration.
Raffaele Falsaperla, Giovanni Corsello
doaj +1 more source
A proteomic analysis of an in vitro knock-out of miR-200c
Scientific Reports, 2018 Loss of miR-200c is correlated to advanced cancer-subtypes due to increased EMT and decreased treatment efficacy by chemotherapeutics. As miRNAs regulate a multitude of targets, the analysis of differentially expressed proteins upon a genomic knock-out ...
Bojan Ljepoja +6 more
doaj +1 more source
The Plight of the Lucluc: Examining the Deadly Mystery of Nodding Syndrome [PDF]
, 2015 Nodding syndrome (NS) is an emerging epidemic neurological disease that is shrouded in mystery. It is currently only found in the post-conflict regions of South Sudan, northern Uganda, and Tanzania.
McGann, Ethan K
core