Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina-Reference-Cited by-同舟云学术

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

Published:2020-01-31 Issue:1 Volume:3 Page:e1920356
ISSN:2574-3805
Container-title:JAMA Network Open
language:en
Short-container-title:JAMA Netw Open

Author:

Lee Stacey¹,Clinard Kristin²,Young Sarah P.³,Rehder Catherine W.⁴,Fan Zheng⁵,Calikoglu Ali S.⁶,Bali Deeksha S.³,Bailey Donald B.¹,Gehtland Lisa M.¹,Millington David S.³,Patel Hari S.⁷,Beckloff Sara E.⁷,Zimmerman Scott J.⁷,Powell Cynthia M.²,Taylor Jennifer L.¹⁸

Affiliation:

1. RTI International, Research Triangle Park, North Carolina

2. Division of Genetics and Metabolism, University of North Carolina at Chapel Hill, Chapel Hill

3. Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina

4. Department of Pathology, Duke University School of Medicine, Durham, North Carolina

5. Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill

6. Division of Pediatric Endocrinology, University of North Carolina at Chapel Hill, Chapel Hill

7. North Carolina State Laboratory of Public Health, Raleigh

8. Now at Division of Newborn and Childhood Screening, Maryland Department of Health, Laboratories Administration, Baltimore

Publisher

American Medical Association (AMA)

Subject

General Medicine

Link

https://jamanetwork.com/journals/jamanetworkopen/articlepdf/2759844/lee_2020_oi_190761.pdf

Reference27 articles.

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2. Adrenoleukodystrophy—neuroendocrine pathogenesis and redefinition of natural history.;Kemp;Nat Rev Endocrinol,2016

3. The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters.;van Roermund;FASEB J,2008

4. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.;Engelen;Orphanet J Rare Dis,2012

5. Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study.;Mahmood;Lancet Neurol,2007

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