Results 101 to 110 of about 19,093 (232)
Endocrinology, Diabetes &Metabolism, Volume 9, Issue 4, July 2026.Early‐onset endocrine salt‐wasting syndromes unrelated to 21‐hydroxylase deficiency overlap markedly at presentation, limiting etiological distinction. In this 20‐patient cohort, disease‐specific patterns emerged during follow‐up, while growth was generally preserved and initial biochemical severity was not associated with later treatment burden or ...
Vittorio Ferrari +7 more
wiley +1 more source
Histochemical characteristics of the striated inclusions of adrenoleukodystrophy. [PDF]
, 1976 The straited accumulations in adrenal cortical cells and brain macrophages that are characteristic of adrenoleukodystrophy have been studied histochemically in cryostat sections to seek leads for the biochemical identification of the striated material ...
A B Johnson, J M Powers, H H Schaumburg
core +1 more source
Journal of Clinical Laboratory Analysis, Volume 40, Issue 14, July 2026.Plasma VLCFA levels are increased in symptomatic X‐linked adrenoleukodystrophy, particularly in patients with cerebral involvement. However, they do not reliably predict disease progression or longitudinal changes. These findings support their diagnostic value while highlighting the need for more robust prognostic biomarkers in clinical practice ...
Sergio Molina Blas +9 more
wiley +1 more source
Two novel missense mutations causing adrenoleukodystrophy in Italian patients [PDF]
, 1999 The authors present two new missense mutations in exon 1 of the adrenoleukodystrophy (ALD) gene. The first, a C813T transition, results in the substitution Pro143 Ser in the third putative transmembrane domain of the adrenoleukodystrophy protein (ALDP ...
Perusi C +9 more
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Child: Care, Health and Development, Volume 52, Issue 4, July 2026.ABSTRACT Background In Japan, the number of children with medical complexity (CMC) is increasing. In response, the Act on Support for Children Requiring Constant Medical Care and Their Families mandated prefectural support centre establishment and promoted coordination across health, welfare and education sectors.
Miku Yamaguchi, Yuki Suzuki
wiley +1 more source
Pericarditis as the Presenting Feature of Adrenoleukodystrophy [PDF]
, 2011 X-linked adrenoleukodystrophy is characterized by elevated levels of very long chain fatty acids in the serum, brain, and adrenal glands that can lead to neurodevelopmental impairment and decreased adrenal function. We report here the case of a pediatric
Alysha J. Taxter +2 more
core +1 more source
Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1236-1248, June 2026.ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela +13 more
wiley +1 more source
The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis [PDF]
, 2015 Christoph Wiesinger,1 Florian S Eichler,2 Johannes Berger1 1Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Vienna, Austria; 2Department for Neurology, Massachusetts General Hospital, Harvard ...
Eichler FS, Berger J, Wiesinger C
core
Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1206-1221, June 2026.ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman +9 more
wiley +1 more source