Adrenoleukodystrophy (ALD) Latest Advances

Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: September 17, 2025

Two cases of X-linked adrenoleukodystrophy presenting with Addison's disease as the initial manifestation and analysis of novel ABCD1 variants

Journal: Zhonghua nei ke za zhi

Published: September 04, 2025

ACOX1 gain-of-function post-mortem neuropathology is distinct from ACOX1 loss-of-function: case report and literature review.

Journal: Free neuropathology

Published: August 18, 2025

Dietary Approaches in the Management of Adrenoleukodystrophy: Evidence Summary for Nutritional Tips.

Journal: Nutrients

Published: August 14, 2025

Incidental diagnosis of primary adrenal insufficiency precipitated by positive ABCD1 gene mutation detected on cascade screening.

Journal: BMJ case reports

Published: August 04, 2025

Bridging Equity Gaps in Newborn Screening: Reflections on X-Linked Adrenoleukodystrophy (X-ALD) and Policy Implications for the Global South.

Journal: Journal of primary care & community health

Published: July 31, 2025

Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions.

Journal: Journal of child neurology

Published: July 23, 2025

Teaching NeuroImage: X-Linked Adrenoleukodystrophy With Rare Temporal Pole Involvement.

Journal: Neurology

Published: July 22, 2025

Beyond newborn screening: the role of reverse cascade testing in familial disease detection.

Journal: Critical reviews in clinical laboratory sciences

Published: July 17, 2025

Clinical Vigilance in Rare Disease Management: Atypical Features Lead to Discovery of Concurrent X-linked Adrenoleukodystrophy and Cystic Fibrosis.

Journal: Journal of child neurology

Published: July 03, 2025

Perceptions and Experiences of Families of Infants Diagnosed with X-Linked Adrenoleukodystrophy (X-ALD) via Newborn Screening in Georgia and Kentucky.

Journal: Journal of primary care & community health

Published: June 29, 2025

A fast GC-MS/MS method for the simultaneous measurement of key metabolites of peroxisomal beta-oxidation and ether lipid biosynthesis in human fibroblasts.

Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences

Published: June 26, 2025

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Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.

Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.

Two cases of X-linked adrenoleukodystrophy presenting with Addison's disease as the initial manifestation and analysis of novel ABCD1 variants

Two cases of X-linked adrenoleukodystrophy presenting with Addison's disease as the initial manifestation and analysis of novel ABCD1 variants

ACOX1 gain-of-function post-mortem neuropathology is distinct from ACOX1 loss-of-function: case report and literature review.

ACOX1 gain-of-function post-mortem neuropathology is distinct from ACOX1 loss-of-function: case report and literature review.

Dietary Approaches in the Management of Adrenoleukodystrophy: Evidence Summary for Nutritional Tips.

Dietary Approaches in the Management of Adrenoleukodystrophy: Evidence Summary for Nutritional Tips.

Incidental diagnosis of primary adrenal insufficiency precipitated by positive ABCD1 gene mutation detected on cascade screening.

Incidental diagnosis of primary adrenal insufficiency precipitated by positive ABCD1 gene mutation detected on cascade screening.

Bridging Equity Gaps in Newborn Screening: Reflections on X-Linked Adrenoleukodystrophy (X-ALD) and Policy Implications for the Global South.

Bridging Equity Gaps in Newborn Screening: Reflections on X-Linked Adrenoleukodystrophy (X-ALD) and Policy Implications for the Global South.

Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions.

Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions.

Teaching NeuroImage: X-Linked Adrenoleukodystrophy With Rare Temporal Pole Involvement.

Teaching NeuroImage: X-Linked Adrenoleukodystrophy With Rare Temporal Pole Involvement.

Beyond newborn screening: the role of reverse cascade testing in familial disease detection.

Beyond newborn screening: the role of reverse cascade testing in familial disease detection.

Clinical Vigilance in Rare Disease Management: Atypical Features Lead to Discovery of Concurrent X-linked Adrenoleukodystrophy and Cystic Fibrosis.

Clinical Vigilance in Rare Disease Management: Atypical Features Lead to Discovery of Concurrent X-linked Adrenoleukodystrophy and Cystic Fibrosis.

Perceptions and Experiences of Families of Infants Diagnosed with X-Linked Adrenoleukodystrophy (X-ALD) via Newborn Screening in Georgia and Kentucky.

Perceptions and Experiences of Families of Infants Diagnosed with X-Linked Adrenoleukodystrophy (X-ALD) via Newborn Screening in Georgia and Kentucky.

A fast GC-MS/MS method for the simultaneous measurement of key metabolites of peroxisomal beta-oxidation and ether lipid biosynthesis in human fibroblasts.

A fast GC-MS/MS method for the simultaneous measurement of key metabolites of peroxisomal beta-oxidation and ether lipid biosynthesis in human fibroblasts.