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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1-2
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pubmed:dateCreated |
2007-8-13
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pubmed:abstractText |
We report a patient with acute intermittent porphyria who presented with progressive motor neuropathy, particularly in the upper limbs. The electrophysiological studies showed an asymmetric motor neuropathy with a prominent involvement of both the radial and left peroneal nerves. During the 1-year follow-up period, 6 courses of hematin infusion, with 150 mg daily for 4 consecutive days every month, were administrated. The motor neuropathy showed a steady and gradual improvement following the hematin treatment. Molecular analysis of the porphobilinogen deaminase gene revealed a short segment deletion (1008-1019delCAGCCTGGCCAA) resulting in a truncated protein. The findings suggest that early hematin treatment is temporally associated with interval improvement of the patient's porphyric motor neuropathy.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0022-510X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
260
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
231-5
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pubmed:meshHeading |
pubmed-meshheading:17459418-Adult,
pubmed-meshheading:17459418-Aminolevulinic Acid,
pubmed-meshheading:17459418-DNA Mutational Analysis,
pubmed-meshheading:17459418-Female,
pubmed-meshheading:17459418-Follow-Up Studies,
pubmed-meshheading:17459418-Genetic Markers,
pubmed-meshheading:17459418-Genetic Predisposition to Disease,
pubmed-meshheading:17459418-Hemin,
pubmed-meshheading:17459418-Humans,
pubmed-meshheading:17459418-Hydroxymethylbilane Synthase,
pubmed-meshheading:17459418-Motor Neuron Disease,
pubmed-meshheading:17459418-Mutation,
pubmed-meshheading:17459418-Pedigree,
pubmed-meshheading:17459418-Peripheral Nervous System Diseases,
pubmed-meshheading:17459418-Polyneuropathies,
pubmed-meshheading:17459418-Porphobilinogen,
pubmed-meshheading:17459418-Porphyria, Acute Intermittent,
pubmed-meshheading:17459418-Treatment Outcome
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pubmed:year |
2007
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pubmed:articleTitle |
Acute intermittent porphyria with peripheral neuropathy: a follow-up study after hematin treatment.
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pubmed:affiliation |
Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, University, Taipei, Taiwan.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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