X-linked Adrenoleukodystrophy
What's New
Last Posted: Mar 10, 2022
- Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future.
Moser Ann B et al. International journal of neonatal screening 2022 8(1) - Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.
Matteson Jamie et al. International journal of neonatal screening 2021 7(2) - Recent Advancements in the Diagnosis and Treatment of Leukodystrophies.
Bradbury Allison M et al. Seminars in pediatric neurology 2021 37100876 - Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns.
Hall Patricia L et al. International journal of neonatal screening 2020 Oct 6(4) - The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California.
Tang Hao et al. International journal of neonatal screening 2020 Aug 6(3) - Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.
Barendsen Rinse W et al. Frontiers in cell and developmental biology 2020 8499 - Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.
Lee Stacey et al. JAMA network open 2020 Jan 3(1) e1920356 - X-linked Adrenoleukodystrophy: Pathology, Pathophysiology, Diagnostic Testing, Newborn Screening, and Therapies.
Turk Bela R et al. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2020 Jan - Transplantation as disease modifying therapy in adults with inherited metabolic disorders.
Sirrs Sandra et al. Journal of inherited metabolic disease 2018 41(5) 885-896 - A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy.
Wiens Katie et al. American journal of medical genetics. Part A 2019 May - Lessons Learned from Newborn Screening in Pilot Studies.
Taylor Jennifer L et al. North Carolina medical journal 80(1) 54-58 - Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme.
Bessey Alice et al. Orphanet journal of rare diseases 2018 Oct 13(1) 179 - Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.
Kemper Alex R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 19(1) 121-126 - CLINGEN Actionability Report for Adrenoleukodystrophy - ABCD1
ClinGen Actionability Working Group - Newborn Screening and Emerging Therapies for X-Linked Adrenoleukodystrophy.
Moser Ann B et al. JAMA neurology 2018 Jun - Updates in Newborn Screening.
Rajabi Farrah et al. Pediatric annals 2018 May 47(5) e187-e190 - Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
Hong Xinying et al. Molecular genetics and metabolism 2018 Mar - Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler Florian et al. The New England journal of medicine 2017 Oct - Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines.
- Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.
- Childhood-onset cerebral X-linked adrenoleukodystrophy
From NCATS Genetic and Rare Diseases Information Center - X-linked adrenoleukodystrophy
From NCATS Genetic and Rare Diseases Information Center
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- Page last reviewed:Oct 1, 2021
- Page last updated:May 28, 2022
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