SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report
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DOI: 10.1186/s12883-021-02087-x
Abstract: Background ALDH18A1 mutations lead to delta-1-pyrroline-5-carboxylate-synthetase (P5CS) deficiency, which is a urea cycle-related disorder including SPG9A, SPG9B, autosomal dominant cutis laxa-3 (ADCL3), and autosomal recessive cutis laxa type 3A (ARCL3A). These diseases exhibit a broad… read more here.
Keywords: pmp22 duplication; aldh18a1 mutation; spg9a; family ... See more keywords
Sleep Problems and New Occurrence of Chronic Conditions during the COVID-19 Pandemic in the UK
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DOI: 10.3390/ijerph192315664
Abstract: The COVID-19 pandemic has negatively impacted upon sleep health. Relatively little is known about how this may influence the population’s health subsequently. This prospective longitudinal study aims to examine the consequences of sleep problems for… read more here.
Keywords: problems new; health; sleep problems; new occurrence ... See more keywords