33 citations
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January 2007 in “Pediatric dermatology” This report describes a 3.5-year-old girl with argininosuccinicaciduria, highlighting congenital trichorrhexis nodosa as a notable feature associated with the disorder.
10 citations
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May 1974 in “American journal of diseases of children” This case report details a 4-year-old girl with arginosuccinic-aciduria, showing neurological symptoms and weakened hair, but the mechanisms behind these issues remain uncertain.
September 1998 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Hair changes could indicate neurological diseases and help monitor treatment.
6 citations
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October 1980 in “Archives of Dermatology” This review discusses various metabolic and vitamin disorders affecting hair structure, including Menkes' syndrome, arginosuccinicaciduria, and recent findings on vitamin-related alopecia, but reports no new clinical results.
February 2019 in “Neoreviews” This case report details the diagnosis and management of argininosuccinate lyase deficiency in an infant, emphasizing initial symptoms, treatment strategies, and subsequent liver transplant leading to recovery.