Results 11 to 20 of about 631,764 (332)
A potential biomarker of cognitive impairment: The olfactory dysfunction and its genes expression
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1884-1897, December 2022., 2022 Abstract Objective Accumulation evidence has reported that olfactory impairment may be an essential clinical marker and predictor of mild cognitive impairment or Alzheimer's disease. Method Participants were enrolled in the population‐based, prospective study in Fuxin county, Liaoning province, China between 2019 and 2021.
Jiayi Song +11 more
wiley +1 more source
Frontiers in Physiology, 2021 Inborn errors of metabolism (IEMs) represent a complex system model, in need of a shift of approach exploring the main factors mediating the regulation of the system, internal or external and overcoming the traditional concept of biochemical and genetic ...
C. Montanari +12 more
semanticscholar +1 more source
Emphasized the diagnosis and therapy of curative neurogenetic diseases
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 In recent years, great progress has been made in the treatment of neurogenetic diseases. Specific drugs have been used to treat diseases that were uncurable in the past, and there are noteworthy curative effects.
ZHANG Cheng
doaj +1 more source
Rare genetic causes of meningitis and encephalitis [PDF]
Encephalitis, 2022 Differential diagnosis of meningitis and encephalitis is often very challenging because it cannot be determined based on symptoms, and the diseases have various causes.
Jangsup Moon
doaj +1 more source
Network location and clustering of genetic mutations determine chronicity in a stylized model of genetic diseases [PDF]
Sci Rep 12, 19906 (2022), 2022 In a highly simplified view, a disease can be seen as the phenotype emerging from the interplay of genetic predisposition and fluctuating environmental stimuli. We formalize this situation in a minimal model, where a network (representing cellular regulation) serves as an interface between an input layer (representing environment) and an output layer ...
arxiv +1 more source
Indian Journal of Pediatrics, 2021 To study the incidence, clinical manifestations, and genetic spectrum of primary immunodeficiency diseases (PID)/inborn errors of immunity (IEI) in a tertiary care hospital in Southern India.
H. Lashkari +15 more
semanticscholar +1 more source
Frontiers in Genetics, 2022 Background: Inborn errors of metabolism are rare genetic disorders; however, these are prevalent in countries with high consanguinity rates, like Lebanon.
Doaa O. Salman +6 more
doaj +1 more source
Annual Review of Pathology, 2020 It was first demonstrated in the late 19th century that human deaths from fever were typically due to infections. As the germ theory gained ground, it replaced the old, unproven theory that deaths from fever reflected a weak personal or even familial ...
J. Casanova, L. Abel
semanticscholar +1 more source
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report
Frontiers in Genetics, 2020 RationaleMucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Caio Perez Gomes +7 more
doaj +1 more source
Anais Brasileiros de Dermatologia, 2015 Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome.
Juliano Peruzzo +4 more
doaj +1 more source