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| http://purl.uniprot.org/citations/28209105 | http://www.w3.org/2000/01/rdf-schema#comment | "Navajo Neurohepatopathy (NNH) is a rare hepatocerebral mitochondrial DNA (mtDNA) depletion syndrome (MDS) with nonspecific clinical or pathologic features aside from Navajo ancestry. Because of the rarity of NNH, diagnosis rests on close clinicopathologic correlation and appropriate tissue triage for quantitative mtDNA analysis. We present a new case of NNH in which the clinical presentation and H&E liver biopsy histology indicated the need for NNH workup. Quantitative analysis of mtDNA in liver tissue was significantly reduced, and mutational analysis of the MPV17 gene confirmed homozygosity for the NNH-associated missense mutation, R50Q. The patient is now one year post liver transplant and continues to have normal liver function tests but suffers multiple immunosuppression-associated co-morbidities. A comprehensive literature review is provided to assist in diagnosis and management of NNH. (Acta gastroenterol. belg., 2016, 79, 463-469)."xsd:string |
| http://purl.uniprot.org/citations/28209105 | http://purl.uniprot.org/core/author | "Hanson J.A."xsd:string |
| http://purl.uniprot.org/citations/28209105 | http://purl.uniprot.org/core/author | "Bitting C.P."xsd:string |
| http://purl.uniprot.org/citations/28209105 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/28209105 | http://purl.uniprot.org/core/name | "Acta Gastroenterol Belg"xsd:string |
| http://purl.uniprot.org/citations/28209105 | http://purl.uniprot.org/core/pages | "463-469"xsd:string |
| http://purl.uniprot.org/citations/28209105 | http://purl.uniprot.org/core/title | "Navajo Neurohepatopathy : A Case Report and Literature Review Emphasizing Clinicopathologic Diagnosis."xsd:string |
| http://purl.uniprot.org/citations/28209105 | http://purl.uniprot.org/core/volume | "79"xsd:string |
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