A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy

Author:

Wiens Katie1ORCID,Berry Susan A.1,Choi Hyoung2,Gaviglio Amy3,Gupta Ashish4,Hietala Amy3,Kenney‐Jung Daniel2,Lund Troy4ORCID,Miller Weston5,Pierpont Elizabeth I.6,Raymond Gerald7,Winslow Holly3,Zierhut Heather A.8ORCID,Orchard Paul J.4

Affiliation:

1. Division of Genetics and Metabolism, Departments of Pediatrics and Genetics, Cell Biology & DevelopmentUniversity of Minnesota Minneapolis MN USA

2. Division of Pediatric Neurology, Department of NeurologyUniversity of Minnesota Minneapolis MN USA

3. Minnesota Department of Health St. Paul MN USA

4. Division of Blood and Marrow Transplantation, Department of PediatricsUniversity of Minnesota Minneapolis MN USA

5. Sangamo Therapeutics, Inc. Brisbane CA USA

6. Division of Clinical Behavioral Neuroscience,Department of PediatricsUniversity of Minnesota Minneapolis MN USA

7. Division of Pediatric Neurology, Department of PediatricsPenn State Health Milton S. Hershey Medical Center Hershey PA USA

8. Department of Genetics, Cell, Biology and DevelopmentUniversity of Minnesota Minneapolis MN USA

Funder

Minnesota Department of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference25 articles.

1. ALD Mutation Database. (2019). Retrieved March 6 2019 fromhttps://adrenoleukodystrophy.info/mutations-and-variants-in-abcd1

2. Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening

3. Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes

4. Elevated plasma adrenocorticotropin concentration as evidence of limited adrenocortical reserve in patients with adrenomyeloneuropathy;Blevins L. S.;Journal of Clinical Endocrinology and Metabolism,1994

5. Caggana M. (2018).Update on X‐ALD screening in the New York Laboratory. Retrieved January 8 2018 fromhttps://www.aidanhasaposse.org/uploads/7/3/6/5/73650801/new_york_ald_nbs_update_michele_caggana_sc.d._facmg.pdf

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