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A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy.
Wiens, Katie; Berry, Susan A; Choi, Hyoung; Gaviglio, Amy; Gupta, Ashish; Hietala, Amy; Kenney-Jung, Daniel; Lund, Troy; Miller, Weston; Pierpont, Elizabeth I; Raymond, Gerald; Winslow, Holly; Zierhut, Heather A; Orchard, Paul J.
Affiliation
  • Wiens K; Division of Genetics and Metabolism, Departments of Pediatrics and Genetics, Cell Biology & Development, University of Minnesota, Minneapolis, MN, USA.
  • Berry SA; Division of Genetics and Metabolism, Departments of Pediatrics and Genetics, Cell Biology & Development, University of Minnesota, Minneapolis, MN, USA.
  • Choi H; Division of Pediatric Neurology, Department of Neurology, University of Minnesota, Minneapolis, MN, USA.
  • Gaviglio A; Minnesota Department of Health, St. Paul, MN, USA.
  • Gupta A; Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
  • Hietala A; Minnesota Department of Health, St. Paul, MN, USA.
  • Kenney-Jung D; Division of Pediatric Neurology, Department of Neurology, University of Minnesota, Minneapolis, MN, USA.
  • Lund T; Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
  • Miller W; Sangamo Therapeutics, Inc., Brisbane, CA, USA.
  • Pierpont EI; Division of Clinical Behavioral Neuroscience,Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
  • Raymond G; Division of Pediatric Neurology, Department of Pediatrics, Penn State Health Milton S. Hershey Medical Center, Hershey, PA, USA.
  • Winslow H; Minnesota Department of Health, St. Paul, MN, USA.
  • Zierhut HA; Department of Genetics, Cell, Biology and Development, University of Minnesota, Minneapolis, MN, USA.
  • Orchard PJ; Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Am J Med Genet A ; 179(7): 1205-1213, 2019 07.
Article in En | MEDLINE | ID: mdl-31074578
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neonatal Screening / Adrenal Insufficiency / Adrenoleukodystrophy / ATP Binding Cassette Transporter, Subfamily D, Member 1 / Mutation Type of study: Diagnostic_studies / Incidence_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Country/Region as subject: America do norte Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: United States Country of publication: United States
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neonatal Screening / Adrenal Insufficiency / Adrenoleukodystrophy / ATP Binding Cassette Transporter, Subfamily D, Member 1 / Mutation Type of study: Diagnostic_studies / Incidence_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Country/Region as subject: America do norte Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: United States Country of publication: United States