Definitive Diagnosis of Mitochondrial Neurogastrointestinal Encephalomyopathy by Biochemical Assays | Zendy

Ramón Martí | Zendy; Antonella Spinazzola | Zendy; Saba Tadesse | Zendy; Ichizo Nishino | Zendy; Yutaka Nishigaki | Zendy; Michio Hirano | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Definitive Diagnosis of Mitochondrial Neurogastrointestinal Encephalomyopathy by Biochemical Assays

Author(s) -

Ramón Martí,

Antonella Spinazzola,

Saba Tadesse,

Ichizo Nishino,

Yutaka Nishigaki,

Michio Hirano

Publication year - 2004

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2003.026179

Subject(s) - mitochondrial encephalomyopathies , mitochondrial encephalomyopathy , medicine , chemistry , mitochondrial myopathy , biochemistry , mitochondrial dna , gene

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the gene encoding thymidine phosphorylase (TP). The clinical manifestations of MNGIE are recognizable and homogeneous, but in the early stages, the disease is often misdiagnosed. This study assesses the reliability of biochemical assays to diagnose MNGIE.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research