Menkes disease complicated by concurrent ACY1 deficiency: A case report.

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Bibliographic Details
Title: Menkes disease complicated by concurrent ACY1 deficiency: A case report.
Authors: Mauri A; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.; Center of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy., Saielli LA; Center of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy., Alfei E; Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy., Iascone M; Medical Genetics Laboratory, Bergamo, Italy., Marchetti D; Medical Genetics Laboratory, Bergamo, Italy., Cattaneo E; Clinical Genetics Unit, Buzzi Children's Hospital, Milan, Italy., Di Lauro A; Center of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy., Antonelli L; Center of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy., Alberti L; Center of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy., Bonaventura E; Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy., Veggiotti P; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.; Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy., Spaccini L; Clinical Genetics Unit, Buzzi Children's Hospital, Milan, Italy., Cereda C; Center of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy.
Source: Frontiers in genetics [Front Genet] 2023 Mar 02; Vol. 14, pp. 1077625. Date of Electronic Publication: 2023 Mar 02 (Print Publication: 2023).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1664-8021
DOI:10.3389/fgene.2023.1077625