ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION

Known as: Ataxia-Deafness-Optic Atrophy, Lethal, Arts syndrome, MENTAL RETARDATION, X-LINKED, SYNDROMIC 18 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2007-2015
0120072015

Papers overview

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2016
2016
Arts syndrome is characterized by early-onset hypotonia, ataxia, intellectual disability, sensorineural hearing impairment… (More)
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2015
2015
Background:PRPS1 encodes isoform I of phosphoribosylpyrophosphate synthetase (PRS-I), a key enzyme in nucleotide biosynthesis… (More)
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Review
2013
Review
2013
OBJECTIVE The purpose of this review was to evaluate the current literature on phosphoribosylpyrophosphate synthetase 1 (PRPS1… (More)
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Review
2010
Review
2010
Phosphoribosylpyrophosphate synthetases (PRSs) catalyze the first step of nucleotide synthesis. Nucleotides are central to cell… (More)
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2007
2007
Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor… (More)
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