X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy.
about
The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosisZellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.Defective ABCD1 does not transfer LCFAs from cytosol to peroxisomal matrix
P2860
X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年學術文章
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2011年學術文章
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name
X-linked adrenomyeloneuropathy ...... g as demyelinating neuropathy.
@en
X-linked adrenomyeloneuropathy ...... g as demyelinating neuropathy.
@nl
type
label
X-linked adrenomyeloneuropathy ...... g as demyelinating neuropathy.
@en
X-linked adrenomyeloneuropathy ...... g as demyelinating neuropathy.
@nl
prefLabel
X-linked adrenomyeloneuropathy ...... g as demyelinating neuropathy.
@en
X-linked adrenomyeloneuropathy ...... g as demyelinating neuropathy.
@nl
P2093
P50
P1476
X-linked adrenomyeloneuropathy ...... g as demyelinating neuropathy.
@en
P2093
Anneke J van der Kooi
Björn M van Geel
Hans R Waterham
Johannes T M Koelman
Marc Engelen
Marianne de Visser
P2860
P304
P356
10.1111/J.1529-8027.2011.00367.X
P577
2011-12-01T00:00:00Z