X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. - Wikidata - wikimedia - TriplyDB

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

http://www.wikidata.org/entity/Q30460666

about

Mimics and chameleons in motor neurone disease Peroxisomes in brain development and function Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.Adrenal disorders and the paediatric brain: pathophysiological considerations and clinical implications.Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy.Loss of AMP-activated protein kinase induces mitochondrial dysfunction and proinflammatory response in unstimulated Abcd1-knockout mice mixed glial cells.MRI demyelination pattern and clinical course in a child with cerebral X-linked adrenoleukodystrophy (X-ALD).Disease specific therapies in leukodystrophies and leukoencephalopathies.The difficulty in diagnosing X linked adrenoleucodystrophy and the importance of identifying cerebral involvement.A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy.Detection and Quantification of Free Radicals in Peroxisomal Disorders: A Comparative Study with Oxidative Stress Parameters Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.Early-onset dementias: diagnostic and etiological considerations.Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Leukodystrophy Presenting as Hyperactivity and Bipolarity with Uncommon Adverse Drug Reaction X-linked adrenoleukodystrophy: pathogenesis and treatment.Emerging treatments for pediatric leukodystrophies.Oxidative Stress in Patients with X-Linked Adrenoleukodystrophy.A Thyroid Hormone-Based Strategy for Correcting the Biochemical Abnormality in X-Linked Adrenoleukodystrophy.Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes.Clinical and Laboratory Diagnosis of Peroxisomal Disorders.Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.Intensity of MRI Gadolinium Enhancement in Cerebral Adrenoleukodystrophy: A Biomarker for Inflammation and Predictor of Outcome following Transplantation in Higher Risk Patients.Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China.Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study.Teaching NeuroImages: MRI findings in X-linked adrenoleukodystrophy.A case of adrenoleukodystrophy presenting with manic symptoms in a patient on steroids for Addison's disease.The Role of MR Imaging in the Assessment of Clinical Outcomes in Children with X-Linked Adrenoleukodystrophy after Allogeneic Haematopoietic Stem Cell Transplantation Anesthesia in a child with adrenoleukodystrophy.X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.Congenital and acquired abnormalities of the corpus callosum: a pictorial essay.

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P2860

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

http://www.wikidata.org/entity/Q30460666

description

2012 nî lūn-bûn

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2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2012 թվականի օգոստոսին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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X-linked adrenoleukodystrophy ...... sis, follow-up and management.

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X-linked adrenoleukodystrophy ...... sis, follow-up and management.

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X-linked adrenoleukodystrophy ...... sis, follow-up and management.

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X-linked adrenoleukodystrophy ...... sis, follow-up and management.

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X-linked adrenoleukodystrophy ...... sis, follow-up and management.

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X-linked adrenoleukodystrophy ...... sis, follow-up and management.

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P1433

Orphanet Journal of Rare Diseases

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X-linked adrenoleukodystrophy ...... osis, follow-up and management

@en

P2093

Björn M van Geel

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Bwee Tien Poll-The

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Marc Engelen

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Marianne de Visser

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Patrick Aubourg

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P2860

The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy

The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil"

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations

Biochemistry of mammalian peroxisomes revisited

A two-year trial of oleic and erucic acids ("Lorenzo's oil") as treatment for adrenomyeloneuropathy

X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes

Myelopathy but normal MRI: where next?

Late-onset adrenoleukodystrophy associated with long-standing psychiatric symptoms.

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51

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scholarly article

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10.1186/1750-1172-7-51

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7

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Ronald J A Wanders

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2012-08-13T00:00:00Z

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230664734

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22889154

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3503704

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