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1                                              MNGIE has clinically homogeneous features but varies in
2                                              MNGIE is a recognizable clinical syndrome caused by muta
3                                              MNGIE is caused by loss-of-function mutations in the gen
4                                              MNGIE mainly presents with gastrointestinal symptoms and
5                            Examination of 12 MNGIE probands revealed homozygous or compound-heterozyg
6 ffy coats were reduced drastically in all 27 MNGIE patients compared with 19 controls.
7                                          All MNGIE patients had much higher plasma levels of thymidin
8                                          All MNGIE patients have had severe loss of TP function and p
9 genetic testing for TYMP variants, confirmed MNGIE.
10 atabolized thymidine in medium; by contrast, MNGIE fibroblasts released thymidine.
11 ial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal, recessive disease caused by mutations
12 ial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by
13 ial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder associated wit
14 ial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by loss
15 ial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder characterized
16 ial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinic
17 ial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive human disease associate
18 ial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive human disease due to mu
19 ial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive multisystem disorder as
20 ial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the gene encoding thymi
21 ial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare, multisystem disorder characte
22 ial neurogastrointestinal encephalomyopathy (MNGIE).
23 ndrial neurogastrointestinal encephalopathy (MNGIE), due to mutations in TYMP, often presents with ga
24 ndrial neurogastrointestinal encephalopathy (MNGIE), the first inherited human disorder of nucleoside
25 nts) who fulfilled our clinical criteria for MNGIE.
26 r TP replacement could be useful therapy for MNGIE.
27 e liver transplantation as a new therapy for MNGIE.
28  in mtDNA of tissues and cultured cells from MNGIE patients.
29               TP activity in leukocytes from MNGIE patients was less than 5 percent of controls, indi
30 hological findings, were later found to have MNGIE.
31      In patients who are suspected of having MNGIE, determination of TP activity in buffy coats and t
32                                           In MNGIE patients, TP activity is very low or absent result
33                                           In MNGIE, severe impairment of TP enzyme activity leads to
34 ence that thymidine metabolism is altered in MNGIE.
35     A novel aspect of the mtDNA deletions in MNGIE is the presence of microdeletions at the imperfect
36 . that most mitochondrial point mutations in MNGIE patients involve T --> C transitions in sequences
37 ochemical defects and clinical phenotypes in MNGIE and supports the notion that reduction of dThd and
38                           Muscle biopsies of MNGIE patients have revealed morphologically abnormal mi
39                             Cosegregation of MNGIE with a single chromosomal region in families with
40 ract with the mitochondrial DNA depletion of MNGIE.
41 of mtDNA deletions in the skeletal muscle of MNGIE patients.
42 entified histological findings suggestive of MNGIE.
43 els in suspected Crohn's disease to rule out MNGIE, particularly if white matter abnormalities are id
44                Spinazzola et al. showed that MNGIE patients have elevated circulating thymidine level
45                                We mapped the MNGIE locus to 22q13.32-qter, distal to D22S1161, with a
46 rt for the first time to our knowledge three MNGIE patients with later onset, milder phenotype, and l
47 reduce thymidine levels may be beneficial to MNGIE patients.
48 severe TP dysfunction, compared with typical MNGIE patients.
49 alities in a 25-year-old woman affected with MNGIE.