Results 11 to 20 of about 29,741 (152)
Medicinski Glasnik Specijalne Bolnice za Bolesti Štitaste Žlezde i Bolesti Metabolizma "Zlatibor", 2016 Introduction: Adrenoleukodystrophy (ALD) is a disease characterized by the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex and
Nišić Tatjana +9 more
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A Case of Adrenoleukodystrophy Presenting as Progressive Cerebellar Dysfunction [PDF]
Journal of Movement Disorders, 2009 X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy.
Seunguk Jung +4 more
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Bone Marrow Transplant in Adrenoleukodystrophy
Pediatric Neurology Briefs, 1997 Three children with adrenoleukodystrophy (ALD) were treated with allogeneic bone marrow transplantation (BMT) at Huddinge University Hospital, Sweden.
J Gordon Millichap
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International Journal of Neonatal Screening, 2023 Adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, encoding for the adrenoleukodystrophy protein (ALDP), leading to defective peroxisomal β-oxidation of very long-chain and branched-chain fatty acids (VLCFA).
Julia Prinzi +6 more
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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
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Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN) [PDF]
Stem Cell Research, 2017 X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder caused by a mutation in the ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene.
Daryeon Son +5 more
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Stem cell-transplantation therapy for adrenoleukodystrophy: current perspectives [PDF]
Journal of Neurorestoratology, 2017 Weston Miller Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA Abstract: Adrenoleukodystrophy (ALD) is a rare, X-linked peroxisomal disorder of impaired very long-chain fatty-acid ...
Miller W
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Lorenzo Oil Therapy for Adrenoleukodystrophy
Pediatric Neurology Briefs, 1993 Dietary therapy with glycerol trioleate and glycerol trierucate (Lorenzo oil) was tested in 108 adult patients with adrenomyeloneuropathy phenotype of adrenoleukodystrophy (ALD) at Johns Hopkins Hospital and the Kennedy Krieger Institute, Baltimore, MD.
J Gordon Millichap
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Prognosis of X-Linked Adrenoleukodystrophy
Pediatric Neurology Briefs, 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, Japan.
J Gordon Millichap
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Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism. [PDF]
Ann Clin Transl NeurolABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Nemeth CL +8 more
europepmc +2 more sources