Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
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DOI: 10.1007/s11011-022-00954-1
Abstract: Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of organic acid metabolism associated with life-threatening acute metabolic decompensations and significant neuropsychological deficits. "Isolated" MMA refers to the presence… read more here.
Keywords: methylmalonic acidemia; isolated methylmalonic; review neuropsychological; neuropsychological outcomes ... See more keywords
Clinical Outcomes of Isolated Congenital Aqueductal Stenosis.
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DOI: 10.1016/j.wneu.2018.03.123
Abstract: INTRODUCTION Hydrocephalus due to congenital aqueductal stenosis (CAS) has significant long-term clinical implications. Previous reports on outcomes after treatment of congenital hydrocephalus are heterogenous and lack specificity for the subgroup of patients with isolated aqueductal… read more here.
Keywords: outcomes isolated; clinical outcomes; aqueductal stenosis; congenital aqueductal ... See more keywords
How Long Does It Take to Achieve Clinically Significant Outcomes After Isolated Biceps Tenodesis?
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DOI: 10.1177/23259671221070857
Abstract: Background: Clinically significant outcomes (CSOs) connect patient-reported outcome measures data to patient-perceived benefit. Although investigators have established threshold values for various CSOs, the timeline to achieve these outcomes after isolated biceps tenodesis (BT) has yet… read more here.
Keywords: tenodesis; outcomes isolated; clinically significant; isolated biceps ... See more keywords