Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.

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Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.

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Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.

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Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.

@ast

Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.

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Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.

@ast

Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.

@en

P1476

Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.

@en

P2093

Chantal M E Tallaksen

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Ellen Jørum

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Karin B M Mikaelsen

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Lars Retterstøl

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Morten A Horn

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Ronald J A Wanders

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Sacha Ferdinandusse

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Svein I Mellgren

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P2860

Rating neurologic impairment in multiple sclerosis: An expanded disability status scale (EDSS)

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

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy.

Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in The Netherlands: a survey of 30 kindreds.

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.

Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy.

Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.

Fasciculations in human hereditary disease.

P304

177-181

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scholarly article

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10.1002/CCR3.434

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2015-12-21T00:00:00Z

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26862418

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4736514

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