PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

OBJECTIVE: To elaborate the diagnostic methods used as “gold standard” in one of the most common glycogen storage diseases (GSDs), Tarui disease (GSDVII). METHODS: Two siblings with disease suggestive of GSD underwent thorough clinical analysis, including muscle biopsy, muscle MRI, exercise tests, l...

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Bibliografiska uppgifter
I publikationen:Neurol Genet
Huvudupphovsmän: Auranen, Mari, Palmio, Johanna, Ylikallio, Emil, Huovinen, Sanna, Paetau, Anders, Sandell, Satu, Haapasalo, Hannu, Viitaniemi, Kati, Piirilä, Päivi, Tyynismaa, Henna, Udd, Bjarne
Materialtyp: Artigo
Språk:Inglês
Publicerad: Wolters Kluwer 2015
Ämnen:
Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4821086/
https://ncbi.nlm.nih.gov/pubmed/27066546
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000007
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