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

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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
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  Data: Menkes disease complicated by concurrent ACY1 deficiency: A case report.
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  Data: <searchLink fieldCode="AU" term="%22Mauri+A%22">Mauri A</searchLink>; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.; Center of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Saielli+LA%22">Saielli LA</searchLink>; Center of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Alfei+E%22">Alfei E</searchLink>; Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Iascone+M%22">Iascone M</searchLink>; Medical Genetics Laboratory, Bergamo, Italy.<br /><searchLink fieldCode="AU" term="%22Marchetti+D%22">Marchetti D</searchLink>; Medical Genetics Laboratory, Bergamo, Italy.<br /><searchLink fieldCode="AU" term="%22Cattaneo+E%22">Cattaneo E</searchLink>; Clinical Genetics Unit, Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Lauro+A%22">Di Lauro A</searchLink>; Center of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Antonelli+L%22">Antonelli L</searchLink>; Center of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Alberti+L%22">Alberti L</searchLink>; Center of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Bonaventura+E%22">Bonaventura E</searchLink>; Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Veggiotti+P%22">Veggiotti P</searchLink>; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.; Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Spaccini+L%22">Spaccini L</searchLink>; Clinical Genetics Unit, Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Cereda+C%22">Cereda C</searchLink>; Center of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2023 Mar 02; Vol. 14, pp. 1077625. <i>Date of Electronic Publication: </i>2023 Mar 02 (<i>Print Publication: </i>2023).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE
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