MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME

Known as: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION, MNGIE, Thymidine Phosphorylase Deficiency 
A rare, autosomal recessive inherited disorder caused by mutation in the TYMP gene. It affects several parts of the body, particularly the… (More)
National Institutes of Health

Papers overview

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2011
2011
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a severe human disease caused by mutations in TYMP, the gene… (More)
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2009
2009
BACKGROUND Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a progressive neurodegenerative disorder associated with… (More)
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Highly Cited
2009
Highly Cited
2009
Replication and repair of DNA require equilibrated pools of deoxynucleoside triphosphate precursors. This concept has been proven… (More)
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2004
2004
BACKGROUND Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the gene encoding thymidine… (More)
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Highly Cited
2003
Highly Cited
2003
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by loss-of-function… (More)
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Highly Cited
2003
Highly Cited
2003
Autosomal recessive progressive external ophthalmoplegia (PEO) is one clinical disorder associated with multiple mitochondrial… (More)
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Highly Cited
2002
Highly Cited
2002
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive human disease due to mutations in the… (More)
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Highly Cited
2000
Highly Cited
2000
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinically by severe… (More)
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1998
1998
A 14-year-old girl with the mitochondrial neurogastrointestinal encephalopathy syndrome had an 8-year history of intestinal… (More)
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Highly Cited
1994
Highly Cited
1994
We studied the clinical, biochemical, and genetic features of eight patients with the autosomal recessive mitochondrial syndrome… (More)
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