Results 121 to 130 of about 3,659,284 (300)
Angewandte Chemie, EarlyView.This review highlights recent advances in integrating biocatalysis and chemocatalysis in continuous flow to create streamlined, sustainable processes. It examines chemo‐enzymatic cascades combining at least one enzymatic and one chemical step, discusses challenges such as enzyme immobilization, leaching, and reactor clogging, and presents solutions ...
Petros Siasiaridis +2 more
wiley +2 more sources
Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa +23 more
wiley +1 more source
CASE REPORT OF A PATIENT WITH TUBERCULOUS OSTEOMASTOIDITIS
Brazilian Journal of Infectious DiseasesTuberculosis (TB) is one of the main causes of global morbidity and mortality, with high incidence in immunosuppressed patients, especially people living with HIV (PLHIV).
Geovani Santos da Silva +4 more
doaj +1 more source
An Inquiry into the Competitiveness of Emerging Philippine Cities [PDF]
This paper attempts to approximate the competitiveness of the country’s ten leading emerging urban centers: Angeles, Baguio, Cagayan de Oro, Davao City, General Santos, Iligan, Iloilo, San Fernando La Union, Tacloban and Zamboanga.
Abasar, Mario V. +8 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
ACUTE MYOCARDITIS CAUSED BY COXSACKIE B VIRUS IN A PATIENT LIVING WITH HIV: A CASE REPORT
Brazilian Journal of Infectious DiseasesMyocarditis is a disease with multifactorial etiology, and viruses are the main infectious agents associated with it. Among viruses, Coxsackie B is widely described as a direct cause of myocardial injury.
Helena Soares Feijoó +4 more
doaj +1 more source
Artificial Intelligence (AI) and Agribusiness: From Automation to Augmentation in a Global Context
Agribusiness, EarlyView.
Alexis H. Villacis
wiley +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao +122 more
wiley +1 more source