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Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology
INTRODUCTION: S-Adenosylhomocysteine hydrolase deficiency (SAHHD) is a rare inherited multisystemic disease with muscle involvement as one of the most prominent and poorly understood features. To get better insight into muscle involvement, skeletal muscles were analyzed by magnetic resonance imaging...
Autores principales: | Petković Ramadža, Danijela, Kuhtić, Ivana, Žarković, Kamelija, Lochmüller, Hanns, Čavka, Mislav, Kovač, Ida, Barić, Ivo, Prutki, Maja |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9026168/ https://www.ncbi.nlm.nih.gov/pubmed/35463910 http://dx.doi.org/10.3389/fped.2022.847445 |
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