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Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.
Rodan, Lance H; Hauptman, Marissa; D'Gama, Alissa M; Qualls, Anita E; Cao, Siqi; Tuschl, Karin; Al-Jasmi, Fatma; Hertecant, Jozef; Hayflick, Susan J; Wessling-Resnick, Marianne; Yang, Edward T; Berry, Gerard T; Gropman, Andrea; Woolf, Alan D; Agrawal, Pankaj B.
Affiliation
  • Rodan LH; Department of Neurology, Boston Children's Hospital, Boston, MA, United States; Harvard Medical School, Boston, MA, United States; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States. Electronic address: lance.rodan@childrens.harvard.edu.
  • Hauptman M; Harvard Medical School, Boston, MA, United States; Pediatric Environmental Health Center, Division of General Pediatrics, Boston Children's Hospital, Boston, MA, United States; Region 1 New, England, Pediatric Environmental Health Specialty Unit (PEHSU), Boston, MA, United States.
  • D'Gama AM; Harvard Medical School, Boston, MA, United States; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States.
  • Qualls AE; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, United States; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, United States.
  • Cao S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, United States; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, United States.
  • Tuschl K; Department of Cell and Developmental Biology, University College London Great Ormond Street Institute of Child Health, London, UK.
  • Al-Jasmi F; Department of Pediatrics, United Arab Emirates University, Al Ain, United Arab Emirates.
  • Hertecant J; Department of Pediatrics, United Arab Emirates University, Al Ain, United Arab Emirates.
  • Hayflick SJ; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, United States; Department of Pathology, Oregon Health & Science University, Portland, OR, United States.
  • Wessling-Resnick M; Department of Genetics and Complex Diseases, Harvard T.H. Chan School of Public Health, Boston, MA, United States.
  • Yang ET; Department of Radiology, Boston Children's Hospital, Boston, MA, United States.
  • Berry GT; Harvard Medical School, Boston, MA, United States; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States.
  • Gropman A; Division of Neurodevelopmental Disabilities and Neurogenetics, Children's National Health System, Washington, DC, United States.
  • Woolf AD; Harvard Medical School, Boston, MA, United States; Pediatric Environmental Health Center, Division of General Pediatrics, Boston Children's Hospital, Boston, MA, United States; Region 1 New, England, Pediatric Environmental Health Specialty Unit (PEHSU), Boston, MA, United States.
  • Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, United States; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, United States.
Mol Genet Metab ; 124(2): 161-167, 2018 06.
Article in En | MEDLINE | ID: mdl-29685658
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Parkinsonian Disorders / Dystonic Disorders / Cation Transport Proteins / Manganese / Metal Metabolism, Inborn Errors / Mutation Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2018 Document type: Article Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Parkinsonian Disorders / Dystonic Disorders / Cation Transport Proteins / Manganese / Metal Metabolism, Inborn Errors / Mutation Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2018 Document type: Article Country of publication: United States