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More than one biopsy was needed to reach the diagnosis in three of the patients
[DOI] [PMC free article] [PubMed] [Google Scholar] 109.Gadde K.M., Martin C.K., Berthoud H.-R., Heymsfield S.B
Proteins such as spastin, DDH2 and spartin, linked to LD metabolism, are commonly mutated in HSP (Fig
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