14 citations
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October 2020 in “Scientific reports” Hair greying is linked to reduced ATM protein in hair cells, which protects against stress and damage.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
11 citations
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November 2020 in “Movement Disorders Clinical Practice” A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.
184 citations
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August 1983 in “The journal of pediatrics/The Journal of pediatrics” Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
57 citations
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March 2011 in “Pediatric Dermatology” Nearly half of children with primary immunodeficiency disorders showed skin problems, often as the first sign of their condition.