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Inflammatory milieu of muscle biopsies in juvenile dermatomyositis

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  1. Article

    Open Access

    Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

    Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each o...

    Emily J. Todd, Kyle S. Yau, Royston Ong, Jennie Slee… in Orphanet Journal of Rare Diseases (2015)

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  2. Article

    Open Access

    Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

    Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or pr...

    Matthias R Baumgartner, Friederike Hörster… in Orphanet Journal of Rare Diseases (2014)

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