Results 111 to 120 of about 19,093 (232)
A novel temporal pattern of childhood cerebral X-linked adrenoleukodystrophy [PDF]
, 2018 We report a 9-year-old boy, with childhood cerebral X-linked adrenoleukodystrophy (CCALD), presenting with an episode of loss of consciousness, fixed gaze, hypotonia and vomit with spontaneous resolution and post-ictal sleep.
Barsacchi, Marina +11 more
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International Journal of Neonatal ScreeningX-linked adrenoleukodystrophy (ALD) is an inherited metabolic disorder that can cause adrenal insufficiency and cerebral ALD (cALD) in childhood. Early detection prevents adverse health outcomes and can be achieved by newborn screening (NBS) followed by ...
Rosalie C. Martens +7 more
doaj +1 more source
Downregulation of Abcd1 in Human Renal Cell Carcinoma [PDF]
, 2011 Renal cell carcinoma (RCC) is the most common malignant tumor of the kidney. Delayed diagnosis may result in progression and metastasis. Markers for early detection of RCC are lacking.
HOUR, TZYH-CHYUAN;KUO, YI-ZIH;LIU, GUANG-YAW;KANG, WANG-YI;HUANG, CHAO-YUAN;TSAI, YU-CHIEH;WU, WEN-JENG;HUANG, SHU-PIN;PU, YEONG-SHIAU +1 more
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Brain Health, Volume 1, Issue 2, 24 June 2026.ABSTRACT Brain disorders are a critical global health challenge, affecting approximately half the world's population (∼4 billion individuals) in 2021 and accounting for 5139 disability‐adjusted life years per 100,000 population. The ramifications extend well beyond clinical manifestations to substantial economic losses, strained healthcare systems, and
Yangyang Duan +13 more
wiley +1 more source
Isolated Corticospinal Tract Lesions as an Early Manifestation of Adrenoleukodystrophy in Children
Annals of the Child Neurology Society, Volume 4, Issue 2, Page 117-124, June 2026.ABSTRACT Purpose X‐linked adrenoleukodystrophy (ALD) encompasses a wide range of neurological manifestations, classically described as distinct phenotypes including childhood cerebral adrenoleukodystrophy and adult‐onset adrenomyeloneuropathy (AMN).
Elle Winter +7 more
wiley +1 more source
ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
The Application of Clinical Genetics, 2022 Alyssa M Volmrich,1 Lauren M Cuénant,1 Irman Forghani,2 Sharon L Hsieh,3 Lauren T Shapiro1 1Department of Physical Medicine & Rehabilitation, University of Miami Miller School of Medicine, Miami, FL, USA; 2Department of Human Genetics, University of ...
Volmrich AM +4 more
doaj
Peroxisomal Lipid Metabolism as a Therapeutic Target in Leukemia
Molecular Nutrition &Food Research, Volume 70, Issue 11, 15 June 2026.Peroxisomes are emerging as key regulators of lipid metabolism in leukemia. Enhanced metabolism of very‐long‐chain fatty acids (VLCFAs) supports leukemia cell survival, redox homeostasis, and therapeutic resistance. Pharmacologic disruption of peroxisomal fatty acid oxidation causes VLCFA accumulation, oxidative stress, and mitochondrial dysfunction ...
Ekaterina N. Parfenova +1 more
wiley +1 more source
Clinical and radiographic course of arrested cerebral adrenoleukodystrophy
Neurology, 2020 Objective To gain insight into the natural history of arrested cerebral adrenoleukodystrophy (CALD) by quantifying the change in Neurologic Function Score (NFS) and Loes Score (LS) over time in patients whose cerebral lesions spontaneously stopped ...
E. Mallack +6 more
semanticscholar +1 more source
Infantile Spasms, Hypsarrhythmia, and Adrenoleukodystrophy (ALD) [PDF]
, 1988 An 8 1/2 month-old girl with seizures beginning at 5 days, hypsarrhythmia in the EEG, severe retardation, and a clinical diagnosis of infantile spasms was discovered to have biochemical and pathological features of adrenoleukodystrophy, as reported from ...
J Gordon Millichap
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Indian Journal of Psychiatry, 2016 Adrenoleukodystrophy (ALD) is an X-linked disorder with diverse clinical presentations. A 30-year-old male, previously diagnosed with Addison's disease, on steroid supplementation for 18 years, presented to us with manic symptoms for 4 years.
K. S. Jyothi, Cyriac George, K. S. Shaji
doaj +1 more source