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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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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 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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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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Recent Progress in Lynch Syndrome and Other Familial Colorectal Cancer Syndromes
Ca-A Cancer Journal for Clinicians, 2018Patrick Boland +2 more
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The Pmpo Syndrome (Postmenopausal Palpable Ovary Syndrome)
Ca-A Cancer Journal for Clinicians, 1972Edward A Graber +2 more
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