Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
about
CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
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Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
description
2003 nî lūn-bûn
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name
Four novel thymidine phosphory ...... thy syndrome (MNGIE) patients.
@en
Four novel thymidine phosphory ...... nal encephalomyopathy syndrome
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type
label
Four novel thymidine phosphory ...... thy syndrome (MNGIE) patients.
@en
Four novel thymidine phosphory ...... nal encephalomyopathy syndrome
@nl
prefLabel
Four novel thymidine phosphory ...... thy syndrome (MNGIE) patients.
@en
Four novel thymidine phosphory ...... nal encephalomyopathy syndrome
@nl
P2860
P356
P1476
Four novel thymidine phosphory ...... athy syndrome (MNGIE) patients
@en
P2093
Sevim Erdem
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5200908
P577
2003-01-01T00:00:00Z