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A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family.

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Title: A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family.
Authors: Maiga AB; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali., Arama A; Centre de Santé Communautaire (CSCOM), Fegui, Kayes, Mali., Yalcouyé A; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali.; McKusick-Nathans Institute and Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Albakaye M; Service de Médecine, Hôpital Fousseyni Dao, Kayes, Mali., Weizhen J; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA., Bamba S; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali.; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA., Traoré O; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali., Sangaré M; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali., Kotioumbé M; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali., Djimdé SO; Service de Neurologie, Centre Hospitalier Universitaire Point G, Bamako, Mali., Goita MK; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali., Diarra S; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali.; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA., Khokha MK; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA., Lakhani SA; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA., Landouré G; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali. guida@icermali.org.; Service de Neurologie, Centre Hospitalier Universitaire Point G, Bamako, Mali. guida@icermali.org.
Source: Neurogenetics [Neurogenetics] 2025 Mar 11; Vol. 26 (1), pp. 35. Date of Electronic Publication: 2025 Mar 11.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family.
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  Data: <searchLink fieldCode="AU" term="%22Maiga+AB%22">Maiga AB</searchLink>; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Arama+A%22">Arama A</searchLink>; Centre de Santé Communautaire (CSCOM), Fegui, Kayes, Mali.<br /><searchLink fieldCode="AU" term="%22Yalcouyé+A%22">Yalcouyé A</searchLink>; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali.; McKusick-Nathans Institute and Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Albakaye+M%22">Albakaye M</searchLink>; Service de Médecine, Hôpital Fousseyni Dao, Kayes, Mali.<br /><searchLink fieldCode="AU" term="%22Weizhen+J%22">Weizhen J</searchLink>; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.<br /><searchLink fieldCode="AU" term="%22Bamba+S%22">Bamba S</searchLink>; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali.; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.<br /><searchLink fieldCode="AU" term="%22Traoré+O%22">Traoré O</searchLink>; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Sangaré+M%22">Sangaré M</searchLink>; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Kotioumbé+M%22">Kotioumbé M</searchLink>; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Djimdé+SO%22">Djimdé SO</searchLink>; Service de Neurologie, Centre Hospitalier Universitaire Point G, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Goita+MK%22">Goita MK</searchLink>; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Diarra+S%22">Diarra S</searchLink>; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali.; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.<br /><searchLink fieldCode="AU" term="%22Khokha+MK%22">Khokha MK</searchLink>; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.<br /><searchLink fieldCode="AU" term="%22Lakhani+SA%22">Lakhani SA</searchLink>; Pediatric Genomics Discovery Program (PGDP), Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.<br /><searchLink fieldCode="AU" term="%22Landouré+G%22">Landouré G</searchLink>; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, P.O BOX: 1805, Bamako, Mali. guida@icermali.org.; Service de Neurologie, Centre Hospitalier Universitaire Point G, Bamako, Mali. guida@icermali.org.
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  Data: <searchLink fieldCode="JN" term="%229709714%22">Neurogenetics</searchLink> [Neurogenetics] 2025 Mar 11; Vol. 26 (1), pp. 35. <i>Date of Electronic Publication: </i>2025 Mar 11.
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