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

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

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Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy

(2021) Isabelle Weinhofer et al.   Nature Communications

Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need

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X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies

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MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy

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An Updated Review of Lysophosphatidylcholine Metabolism in Human Diseases

(2019) Shi-Hui Law et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The natural history of adrenal insufficiency in X-linked adrenoleukodystrophy: an international collaboration

(2018) Irene C Huffnagel et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation

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Natural history of a cohort of ABCD1 variant female carriers

(2018) T. Schirinzi et al.   EUROPEAN JOURNAL OF NEUROLOGY

Inflammatory profile in X-linked adrenoleukodystrophy patients: Understanding disease progression

(2017) Desirèe Padilha Marchetti et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

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

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Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation

(2016) Alex R. Kemper et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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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

Lysophosphatidylcholine perpetuates macrophage polarization toward classically activated phenotype in inflammation

(2014) Xiaofei Qin et al.   CELLULAR IMMUNOLOGY

Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible

(2013) Christiane Theda et al.   MOLECULAR GENETICS AND METABOLISM

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

(2012) Marc Engelen et al.   Orphanet Journal of Rare Diseases

Adrenoleukodystrophy in female heterozygotes: Underrecognized and undertreated

(2011) Parastoo Jangouk et al.   MOLECULAR GENETICS AND METABOLISM