Results 61 to 70 of about 143,662 (295)
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7 [PDF]
, 2021 Sandrina P. Correia +13 more
openalex +1 more source
Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt +9 more
wiley +1 more source
Jornal de Pediatria, 2007 OBJETIVO: Apresentar uma revisão atualizada e crítica sobre os mecanismos das principais patologias associadas e o tratamento da acidose metabólica, discutindo aspectos controversos quanto aos benefícios e riscos da utilização do bicarbonato de sódio e ...
Olberes V. B. Andrade +2 more
doaj +1 more source
Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures
Annals of Neurology, EarlyView.Objective Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.
Haley E. Pysick +9 more
wiley +1 more source
Implantable Drug Delivery Systems for Skeletal Muscles and Eyes
Advanced NanoBiomed Research, EarlyView.This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov +8 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract Intermittent hypobaric hypoxia (IHH) enhances oxygen transport, muscle metabolism, and cardiovascular health; however, the combined effects of hypobaria and cold are less well understood. Exposure to these stressful environmental factors, even intermittently, can affect skeletal muscle due to its plasticity, thereby altering its metabolic and ...
Garoa Santocildes +3 more
wiley +1 more source
British Journal of Clinical Pharmacology, EarlyView.Aims This real‐world pharmacovigilance study utilizes FDA Adverse Event Reporting System (FAERS) data (2004–2024) to characterize age‐related disparities in hydroxychloroquine (HCQ)‐associated adverse events (AEs), addressing gaps in age‐stratified risk assessment. Methods Disproportionality analysis (reporting odds ratios, RORs) and parametric Weibull
Guanghan Sun +4 more
wiley +1 more source
Efficacy of vesicostomy for refractory metabolic acidosis in persistent cloaca
, 2022 Satoshi Okada +6 more
openalex +2 more sources
British Journal of Clinical Pharmacology, EarlyView.Aims Glycogen storage disease type Ib (GSD‐Ib) is a rare genetic disorder causing neutropenia and neutrophil dysfunction in children. G‐CSF has been the primary treatment, but emerging data support the potential of empagliflozin, an SGLT2 inhibitor, as a promising investigational option.
Elizabeth Iwasyk +5 more
wiley +1 more source