Results 61 to 70 of about 26,855 (306)
Advanced Science, EarlyView.Root lodging severely limits crop yield and quality. We reveal that ZmRLR1, a plasma membrane b‐type cytochrome, regulates lodging resistance in maize through dual roles: modulating intracellular redox balance and functioning as a novel component of clathrin‐mediated endocytosis to influence auxin homeostasis. Moreover, natural variations in the ZmRLR1
Wenshuai Lv +7 more
wiley +1 more source
CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT [PDF]
Khyber Medical University Journal, 2018 Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme defect that breaks down branched-chain amino acid (BCAA).
Zara Idrees +3 more
doaj
Journal of Pediatric Critical Care, 2020 The metabolic crisis due to inborn error of metabolism can present as an isolated entity or along with the underlying sepsis at any age in children. Here, we present 14 months old boy born of third-degree consanguinity, apparently healthy in the past ...
Ramaning Loni +4 more
doaj +1 more source
Vaccination strategies for people living with inborn errors of metabolism in Brazil
Jornal de Pediatria, 2023 Objective: Through a literature review, make recommendations regarding immunizations in people living with Inborn Error of Metabolism (IEM) in Brazil, assess the possible impact on metabolic decompensations after immunization, and if this specific ...
Barbara C.F. Ramos +6 more
doaj +1 more source
Amino Acids and Acylcarnitines Reference Values for Neonatal Screening of Inborn Errors of Metabolism in Colombia by Tandem Mass Spectrometry [PDF]
, 2021 Antonio Bermúdez +3 more
openalex +1 more source
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources
Advanced Science, EarlyView.Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling +17 more
wiley +1 more source
Frequency inborn error of mitochondrial function in Mosul and Kurdistan region
Iraqi Journal of Pharmaceutical Sciences, 2020 This work aimed to estimate the frequency of mitochondrial inborn errors of metabolism (MIEMs) in patients presenting with family history and IEM-picture who referred for advance IEM assay in Mosul province and Kurdistan region.
Ashwaq N. Abbas +2 more
doaj +3 more sources
Evaluation of Genetic Causes of Cardiomyopathy in Childhood [PDF]
, 2015 Cardiomyopathy frequently has a genetic basis. In adults, mutations in genes encoding components of the sarcomere, cytoskeleton, or desmosome are frequent genetic causes of cardiomyopathy.
Ware, Stephanie M.
core +1 more source
Advanced Intelligent Systems, EarlyView.This paper presents an integrated AI‐driven cardiovascular platform unifying multimodal data, predictive analytics, and real‐time monitoring. It demonstrates how artificial intelligence—from deep learning to federated learning—enables early diagnosis, precision treatment, and personalized rehabilitation across the full disease lifecycle, promoting a ...
Mowei Kong +4 more
wiley +1 more source