Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neuroga...
Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy
About this item
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Publisher
Hoboken, USA: John Wiley & Sons, Inc
Journal title
Language
English
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Publication information
Publisher
Hoboken, USA: John Wiley & Sons, Inc
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Scope and Contents
Contents
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive gastrointestinal and neurological findings. This retrospective observational study, aimed to explore the time of presentation, diagnosis and clinical follow‐up of 13 patients with a confirmed MNG...
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Full title
Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy
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TN_cdi_doaj_primary_oai_doaj_org_article_fa1e7a6b696a40c6a9e89adca314e9cc
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_fa1e7a6b696a40c6a9e89adca314e9cc
Other Identifiers
ISSN
2192-8312,2192-8304
E-ISSN
2192-8312
DOI
10.1002/jmd2.12315
