Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.
about
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3Bilateral symmetrical basal ganglia and thalamic lesions in children: an update (2015).Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.Pharmacokinetics and pharmacodynamics of MD1003 (high-dose biotin) in the treatment of progressive multiple sclerosis.Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.
P2860
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P2860
Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.
description
2002 nî lūn-bûn
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2002年の論文
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2002年学术文章
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name
Familial infantile bilateral s ...... response to biotin treatment.
@en
Familial infantile bilateral s ...... response to biotin treatment.
@nl
type
label
Familial infantile bilateral s ...... response to biotin treatment.
@en
Familial infantile bilateral s ...... response to biotin treatment.
@nl
prefLabel
Familial infantile bilateral s ...... response to biotin treatment.
@en
Familial infantile bilateral s ...... response to biotin treatment.
@nl
P2093
P356
P1433
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Familial infantile bilateral s ...... response to biotin treatment.
@en
P2093
Djaldetti R
Kornreich L
Straussberg R
P304
P356
10.1212/WNL.59.7.983
P407
P577
2002-10-01T00:00:00Z