Results 261 to 270 of about 107,750 (302)
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[Autoinflammatory syndromes: inborn errors of natural immunity].
Recenti progressi in medicina, 2007The notion of autoinflammatory diseases delineates a heterogenous group of genetic pathologies characterized by spontaneous periodic systemic inflammation in the absence of infectious or autoimmune causes. The general hypothesis is that the innate immune response in these patients is wrongly tuned, being either too sensitive to minor stimuli or turned ...
COLINA, Matteo +6 more
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Pediatric neurological syndromes and inborn errors of purine metabolism
Neurochemistry International, 2010This review is devised to gather the presently known inborn errors of purine metabolism that manifest neurological pediatric syndromes. The aim is to draw a comprehensive picture of these rare diseases, characterized by unexpected and often devastating neurological symptoms.
CAMICI, MARCELLA +3 more
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Refractive errors in children and young adults with Down’s syndrome
Acta Ophthalmologica, 2011Abstract.Purpose: Down’s syndrome (DS) is the most common chromosomal anomaly. Numerous ophthalmic features have been reported. The aim of our study was to investigate the incidence of refractive errors in children and young adults with DS in Macedonia.Methods: Fifty‐six children and young adults with DS, aged 2–28 years, from Macedonia, underwent ...
Antonela, Ljubic +3 more
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Explicit error syndrome calculation for quantum graph codes
Quantum Information Processing, 2012zbMATH Open Web Interface contents unavailable due to conflicting licenses.
Gilson O. dos Santos +2 more
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Inborn Errors of Immunity and Cytokine Storm Syndromes
Inborn errors of immunity (IEI) are a diverse and growing category of more than 430 chronic disorders that share susceptibilities to infections. Whether the result of a genetic lesion that causes defective granule-dependent cytotoxicity, excessive lymphoproliferation, or an overwhelming infection represents a unique antigenic challenge, IEIs can ...Whitney, Reid, Neil, Romberg
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Refractive Errors in the Fragile‐X Syndrome
Acta Paediatrica, 1985A, Flood, G, Sanner
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[Compartment syndrome--indication for a treatment error?].
Aktuelle Traumatologie, 1992The compartment syndrome is a complication caused by trauma or treatment, which indicates liability especially as a result of minor injuries or treatment. According to the outstanding importance of observation of the course of treatment the careful documentation also has to be stressed.
V, Echtermeyer, E, Ludolph
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Metabolic syndrome and inborn errors of immunity: A plausible connection
Immunology LettersInborn errors of immunity (IEI), traditionally known as primary immunodeficiencies, are genetically driven disorders that impair immune function. Emerging evidence suggests a strong connection between IEI and metabolic syndrome, including obesity, insulin resistance, and cardiovascular diseases, highlighting the complex interplay between immune and ...
, Mohit +3 more
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Management of Antithrombotic Therapy after Acute Coronary Syndromes
New England Journal of Medicine, 2021Fatima Rodríguez, Robert A Harrington
exaly