Results 11 to 20 of about 1,386 (146)
Genetics of X-Linked Adrenoleukodystrophy
Pediatric Neurology Briefs, 2002 An 8.5-year-old girl with cerebral X-linked adrenoleukodystrophy is reported from Ben-Gurion University, Beer Sheva, Israel, and Johns Hopkins University, Baltimore, MD.
J Gordon Millichap
doaj +2 more sources
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
doaj +2 more sources
Management of X-linked adrenoleukodystrophy in Morocco: actual situation
BMC Research Notes, 2017 Objectives X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy and childhood cerebral Adrenoleukodystrophy are the most common phenotypes. This paper focuses on a descriptive study of
F. Z. Madani Benjelloun +4 more
doaj +2 more sources
Journal of Medical Case Reports, 2009 Introduction X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic
Cakan Nedim +2 more
doaj +3 more sources
Pathophysiology of X-linked adrenoleukodystrophy
Biochimie, 2014 Currently the molecular basis for the clinical heterogeneity of X-linked adrenoleukodystrophy (X-ALD) is poorly understood. The genetic bases for all different phenotypic variants of X-ALD are mutations in the gene encoding the peroxisomal ATP-binding cassette (ABC) transporter, ABCD1 (formerly adrenoleukodystrophy protein, ALDP).
Berger, J. +2 more
openaire +3 more sources
X-linked adrenoleukodystrophy: a clinical case
Лечащий ВрачBackground. Adrenoleukodystrophy (ALD) is an orphan hereditary disease associated with severe metabolic disorders. Taking into account the late appearance of symptoms of the disease with irreversible progression, it is relevant to introduce methods of ...
V. S. Ledneva +5 more
doaj +2 more sources
Newborn Screening for X-Linked Adrenoleukodystrophy
International Journal of Neonatal Screening, 2016 Early diagnosis of males with X-linked adrenoleukodystrophy (X-ALD) is essential for preventing loss of life due to adrenal insufficiency and for timely therapy of the childhood cerebral form of X-ALD with hematopoietic cell transplantation. This article
Ann B. Moser +7 more
doaj +2 more sources
Biochemical Aspects of X‐Linked Adrenoleukodystrophy
Brain Pathology, 2010 AbstractX‐linked adrenoleukodystrophy (X‐ALD) is the most common peroxisomal disorder. The disease is characterized by the accumulation of very long‐chain fatty acids (VLCFA; >C22) in plasma and tissues. X‐ALD is caused by mutations in the ABCD1 gene encoding ALDP, an adenosine triphosphate (ATP)‐binding‐cassette (ABC) transporter located in the ...
Kemp, Stephan, Wanders, Ronald
openaire +5 more sources
Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience
International Journal of Neonatal Screening, 2022 X-linked adrenoleukodystrophy (X-ALD) is a genetic neurodegenerative disorder with an approximate incidence of 1 in 14,700 births. Both males and females are affected.
Barbara K. Burton +7 more
doaj +2 more sources
Adrenomyeoloneuropathy, X-linked adrenoleukodystrophy phenotype. A Case Report
Revista Habanera de Ciencias Médicas, 2018 Introduction: Adrenomyeoloneuropathy is a peroxisomal disease with a sex-linked pattern of inheritance. It is a phenotypic variety of X-linked adrenoleukodystrophy; this last one is also a cause of adrenal insufficiency.
Alberto Juan Dorta-Contreras +2 more
doaj +2 more sources