Results 81 to 90 of about 19,093 (232)
Monitoring for and Management of Endocrine Dysfunction in Adrenoleukodystrophy
International Journal of Neonatal Screening, 2022 Adrenoleukodystrophy (ALD) is a peroxisomal disorder affecting the nervous system, adrenal cortical function, and testicular function. Newborn screening for ALD has the potential to identify patients at high risk for life-threatening adrenal crisis and ...
Isha Kachwala, Molly O. Regelmann
doaj +1 more source
Longitudinal Clinical Progression in X‐Linked Adrenoleukodystrophy: The AMNL Scoring System
Annals of the Child Neurology Society, EarlyView.ABSTRACT Objective The current clinical nomenclature for individuals with ABCD1 gene dysfunction is often uninformative. The disorder was initially described as a combination of adrenal insufficiency and leukodystrophy, leading to the widespread use of “X‐linked adrenoleukodystrophy” (ALD).
Eda G. Kabak +7 more
wiley +1 more source
Cognitive Functions in Adult‐Onset Phenotypes of X‐Linked Adrenoleukodystrophy
Annals of Neurology, 2021 X‐linked adrenoleukodystrophy (X‐ALD) is a rare genetic disorder characterized by progressive demyelination ranging from mild myelopathic forms (adrenomyeloneuropathy [AMN]) to severe cerebral variants (adult cerebral adrenoleukodystrophy [ACALD]).
Lisa M. Schäfer +4 more
semanticscholar +1 more source
Prognosis of X-Linked Adrenoleukodystrophy [PDF]
, 2005 The natural history of X-linked adrenoleukodystrophy (ALD) was determined by questionnaire survey in a nation-wide retrospective study of 145 patients at Gifu University School of Medicine, and the Ministry of Health, Labor and Welfare ...
J Gordon Millichap
core +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Dystonic opisthotonus: A rare phenotype of adrenoleukodystrophy
Annals of Movement Disorders, 2019 X-linked adrenoleukodystrophy (X-ALD) is a pan-ethnic disorder and affects approximately 1:20,000 males (Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy.
Sindhu D Mallikarjuna +3 more
doaj +1 more source
Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source
Spinal cord trauma and the molecular point of no return [PDF]
, 2012 A mechanical trauma to the spinal cord can be followed by the development of irreversible and progressive neurodegeneration, as opposed to a temporary or partially reversible neurological damage.
Yip, PK +5 more
core +2 more sources
British Journal of Haematology, EarlyView.Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi +3 more
wiley +1 more source
Adrenoleukodystrophy: Hair studies [PDF]
, 1995 Fourteen young patients affected by adrenoleukodystrophy were the subjects of this study aimed at evaluating their hair. Hair was thin and light upon clinical examination and several structural and biochemical anomalies were detected during all ...
D. Barra Bossa +5 more
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