Results 51 to 60 of about 4,338 (139)

Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5‐Year Update

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Our objectives are to report on the outcomes of adrenal insufficiency (AI) and cerebral ALD (cALD) in children diagnosed with X‐linked adrenoleukodystrophy (ALD) identified by newborn screening (NBS) in Minnesota in the first 5 years following initiation of NBS in 02/2017.
Arpana Rayannavar, Charles J. Billington Jr, Rebecca Tryon, Tory Kaye, Ashish Gupta, Troy C. Lund, Aida Lteif, Katherine Adriatico, Paul J. Orchard, Bradley S. Miller, Nishitha R. Pillai   +10 more
wiley   +1 more source

Peripheral nerve abnormalities in adrenomyeloneuropathy: a clinical and electrodiagnostic study

, 1996
Adrenomyeloneuropathy (AMN) is one of the most frequent phenotypes of X-linked adrenoleukodystrophy. Whether the polyneuropathy in AMN results from primary demyelination or axonal degeneration is uncertain.
Barth, P. G., van Geel, B. M., Ongerboer de Visser, B. W., Koelman, J. H.   +3 more
core   +1 more source

Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodydtrophy despite treatment with "Lozenzo's oil" [PDF]

, 1999
OBJECTIVES: X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal fatty acid oxidation, biochemically characterised by the accumulation of saturated very long chain fatty acids (VLCFAs), particularly hexacosanoic acid (C26:0 ...
Barth, P. G., van Geel, B. M., Verbeeten, B., Wanders, R.J.A., Haverkort, E. B., Barth, P.G., ?, ?, Assies, J., Verbeeten, B.W.J.M., Haverkort, E.B., Koelman, J.H.T.M., Koelman, J. H., van Geel, B.M., Wanders, R. J.   +13 more
core   +2 more sources

Blood Biomarkers Reflecting Brain Pathology—From Common Grounds to Rare Frontiers

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Understanding pathological changes in the brain is essential for guiding treatment decisions in brain injuries and diseases. Despite significant advances in brain imaging techniques, clinical practice still faces challenges due to infrastructure reliance and high resource demands.
Isabelle Weinhofer, Paulus Rommer, Johannes Berger   +2 more
wiley   +1 more source

Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell‐derived astrocytes from adrenoleukodystrophy patients

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract X‐linked adrenoleukodystrophy (ALD) is a peroxisomal disorder resulting from pathogenic variants in the ABCD1 gene that primarily affects the nervous system and is characterized by progressive axonal degeneration in the spinal cord and peripheral nerves and leukodystrophy.
Roberto Montoro Ferrer, Yorrick R. J. Jaspers, Inge M. E. Dijkstra, Nicole Breeuwsma, Jan‐Bert van Klinken, Cato Romero, Marc Engelen, Stephan Kemp, Vivi M. Heine   +8 more
wiley   +1 more source

Comparison of Amn between species.

, 2022
All PDB structures identified by BLAST as close Amn homologs were aligned to Amn in UCSF Chimera (A). Color and ribbon width indicate the all-atom spatial distance RMSD of each residue from that of KpAmn; a thin line represents absence of the ...
Jarrod B. French (1328283), Wesley C. Van Voorhis (10332534), Brian C. Richardson (13989661), Roger Shek (1500097)   +3 more
core   +1 more source

Progression of Spinal Cord Disease in Adult Men With Adrenoleukodystrophy

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
ABSTRACT This study presents the longest systematic prospective follow‐up of spinal cord disease in adult male ALD patients to date. Standardized yearly quantitative data collection included scoring of the EDSS, SSPROM, 6‐min walking test (6MWT), urological and quality of life questionnaires and vibration sense of the hallux.
Hemmo A. F. Yska, Marije Voermans, Eda Kabak, Marc Engelen   +3 more
wiley   +1 more source

Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in The Netherlands: a survey of 30 kindreds

, 1994
X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal beta-oxidation associated with accumulation of saturated very long-chain fatty acids, which results in central and peripheral demyelination and in impaired function of adrenal ...
Barth, P. G., Assies, J., van Geel, B. M., Weverling, G. J.   +3 more
core   +1 more source

Loss of AMP-Activated Protein Kinase Induces Mitochondrial Dysfunction and Proinflammatory Response in Unstimulated Abcd1-Knockout Mice Mixed Glial Cells

Mediators of Inflammation, 2015
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations and/or deletions in the ABCD1 gene. Similar mutations/deletions can give rise to variable phenotypes ranging from mild adrenomyeloneuropathy (AMN) to inflammatory fatal cerebral ...
Jaspreet Singh, Hamid Suhail, Shailendra Giri   +2 more
doaj   +1 more source

International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy

Journal of Inherited Metabolic Disease, Volume 47, Issue 6, Page 1336-1347, November 2024.
Abstract Background The most common manifestation of X‐linked adrenoleukodystrophy (ALD) is a slowly progressive myeloneuropathy, which leads to imbalance and gait disturbances. The variable progression of the disease complicates evaluation of its progression rate. Wearable sensors allow for easy and frequent balance and gait collection.
Hemmo A. F. Yska, Bela R. Turk, Ali Fatemi, Jordan Goodman, Marije Voermans, Dan Amos, Man Amanat, Stephanie van de Stadt, Marc Engelen, Amena Smith‐Fine, Jennifer Keller   +10 more
wiley   +1 more source