Results 141 to 150 of about 174,613,300 (296)
, 2018 Major progress occurred in understanding inborn errors of ketone body transport and metabolism between the International Congresses on Inborn Errors of Metabolism in Barcelona (2013) and Rio de Janeiro (2017).
Grant A. Mitchell MD +11 more
core +1 more source
Mass Spectrometry Reviews, EarlyView.ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
Genetic Etiologies of Dystonia with Anarthria/Aphonia
Movement Disorders Clinical Practice, EarlyView.Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey +7 more
wiley +1 more source
Clinical periodontal diagnosis
Periodontology 2000, EarlyView., 2023 Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi +5 more
wiley +1 more source
Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases. [PDF]
Mol Genet Genomic Med, 2020 Weber Hoss GR +3 more
europepmc +1 more source
Precision immunomodulation for pediatric hemophagocytic lymphohistiocytosis in intensive care
Pediatric Investigation, EarlyView.This review presents a bedside framework for recognizing pediatric hemophagocytic lymphohistiocytosis and cytokine storm, stabilizing organ dysfunction, identifying the underlying phenotype, selecting targeted immunomodulation, considering extracorporeal adjuncts, and reassessing response within 24–72 h. ABSTRACT Hemophagocytic lymphohistiocytosis (HLH)
Weerapong Lilitwat, Prakreeti Bhandari
wiley +1 more source
Peritoneal Dialysis Using a Bicarbonate-buffered Dialysate in a Child with an Inborn Error of Metabolism Presenting with Severe Acidosis. [PDF]
Indian J Crit Care Med, 2020 Kalbhande A, Gajare U, Shanbag P.
europepmc +1 more source
Pest Management Science, EarlyView.Identifying resistance‐conferring cytochrome P450s requires integrating weed characterization, gene discovery and functional validation. No single approach is sufficient to distinguish causal resistance genes from herbicide‐metabolizing enzymes. Abstract Cytochrome P450 monooxygenases (P450s) play a pivotal role in metabolic herbicide resistance, yet ...
Satoshi Iwakami, Takuya Yamaguchi
wiley +1 more source