A practical approach to peripheral autonomic neuropathies
Sign Up to like & getrecommendations! Published in 2021 at "Current Opinion in Neurology"
DOI: 10.1097/wco.0000000000000962
Abstract: Purpose of review The review focuses on the practical evaluation and management of patients with autonomic neuropathies. Recent findings Autonomic neuropathies are complex disorders and result in diverse clinical manifestations that affect the cardiovascular, gastrointestinal,… read more here.
Keywords: approach peripheral; peripheral autonomic; treatment; disease ... See more keywords
Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing
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DOI: 10.1212/nxg.0000000000000568
Abstract: Objective To test the hypothesis that many patients presenting with congenital insensitivity to pain have lesser known or unidentified mutations not captured by conventional genetic panels, we performed whole-exome sequencing in a cohort of well-characterized… read more here.
Keywords: exome sequencing; sensory autonomic; whole exome; congenital sensory ... See more keywords
Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2020.00492
Abstract: Background: Hereditary sensory and autonomic neuropathies (HSANs) are a rare and severe group of sensory axonal neuropathies. HSANs have been classified into eight groups based on mode of inheritance, clinical features, and the involved genes.… read more here.
Keywords: sensory autonomic; chinese family; family; autonomic neuropathies ... See more keywords