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...

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Detalles Bibliográficos
Autores principales: Petković Ramadža, Danijela, Kuhtić, Ivana, Žarković, Kamelija, Lochmüller, Hanns, Čavka, Mislav, Kovač, Ida, Barić, Ivo, Prutki, Maja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
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

Internet

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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