ArticleBiomedical reports2023
Variants of
Article in Biomedical reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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8 authors.
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Abstract
Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease. The condition is also known as 'diabetes insipidus, diabetes mellitus (DM), optic atrophy (OA) and deafness', with early onset DM and OA as the usual initial manifestations in childhood. The present study reports a case of WS1 in a 3.5-year-old boy. The clinical characteristics of the patient were collected from medical records. Based on the clinical findings, a diagnosis of renal failure, moderate ammonia and congenital heart disease was considered. A diagnosis of WS1 was also suspected, as an abnormal plasma glucose level and retinitis pigmentosa were found. Whole exome sequencing was therefore performed for the differential diagnosis. Two homozygous variants in the wolframin endoplasmic reticulum transmembrane glycoprotein (
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