Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology

• Үндсэн зохиолчид: Danijela Petković Ramadža (Зохиогч), Ivana Kuhtić (Зохиогч), Kamelija Žarković (Зохиогч), Hanns Lochmüller (Зохиогч), Mislav Čavka (Зохиогч), Ida Kovač (Зохиогч), Ivo Barić (Зохиогч), Maja Prutki (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Frontiers Media S.A., 2022-04-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: Connect to this object online.

IntroductionS-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 (...