Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).
about
Inborn errors of pyrimidine metabolism: clinical update and therapyThymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome.Inosine triphosphate pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defectsMitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.
P2860
Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).
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
Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).
@en
Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency
@nl
type
label
Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).
@en
Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency
@nl
prefLabel
Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).
@en
Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency
@nl
P2093
P356
P1476
Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).
@en
P2093
Fairbanks LD
Hammans SR
Marinaki AM
P2888
P304
P356
10.1023/A:1022007827133
P577
2002-11-01T00:00:00Z
P6179
1033560419