Sex‐specific newborn screening for X‐linked adrenoleukodystrophy

Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy

(2022) Eric J. Mallack et al.   Cells

X‑linked adrenoleukodystrophy caused by maternal ABCD1 mutation and paternal X chromosome inactivation

(2022) Zhen Li et al.   Experimental and Therapeutic Medicine

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan

(2022) Hui-An Chen et al.   Molecular Genetics and Metabolism Reports

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene

(2021) Stephanie I. W. van de Stadt et al.   Genes

Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective

(2021) Tessa van Dijk et al.   Frontiers in Pediatrics

Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need

(2021) Madison I. J. Honey et al.   Cells

Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders

(2020) Yorrick R. J. Jaspers et al.   Frontiers in Cell and Developmental Biology

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

(2020) Rinse W. Barendsen et al.   Frontiers in Cell and Developmental Biology

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

(2019) Katie Wiens et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness

(2018) Irene C Huffnagel et al.   BRAIN

Neurocognitive Trajectory of Boys Who Received a Hematopoietic Stem Cell Transplant at an Early Stage of Childhood Cerebral Adrenoleukodystrophy

(2017) Elizabeth I. Pierpont et al.   JAMA Neurology

Screening of Newborns for Disorders with High Benefit-Risk Ratios Should Be Mandatory

(2016) Nicole Kelly et al.   JOURNAL OF LAW MEDICINE & ETHICS

Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history

(2016) Stephan Kemp et al.   Nature Reviews Endocrinology

Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines

(2015) B.H. Vogel et al.   MOLECULAR GENETICS AND METABOLISM

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study

(2014) Marc Engelen et al.   BRAIN

Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

(2012) Fernanda dos Santos Pereira et al.   PLoS One

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method

(2009) Walter C. Hubbard et al.   MOLECULAR GENETICS AND METABOLISM