• E. Rush
    (2016). Vol. 8

    Abstract
    A 14 year old patient with short stature, type I diabetes, and cataracts was referred for evaluation of avascular necrosis of the femoral head. Radiography was suggestive [...]

  • J. Schwoerer, S. Calcar, G. Rice, J. Deline
    (2016). Vol. 8

    Abstract
    Propionic acidemia (PA) is an inborn error of protein metabolism with a variable clinical presentation ranging from neonatal encephalopathy to seemingly asymptomatic individuals [...]

  • J. Finsterer, C. Stöllberger, E. Wollmann, S. Dertinger, F. Laccone
    (2016).

    Abstract
    Carvajal syndrome is an autosomal dominant or autosomal recessive disorder, manifesting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoma. Additional manifestations [...]

  • J. Schneider, L. Burmeister, K. Rudser, C. Whitley, J. Utz
    (2016). Vol. 8

    Abstract
    In Pompe disease, a deficiency of acid α-glucosidase enzyme activity leads to pathologic accumulation of glycogen in tissues. Phenotype heterogeneity in Pompe includes an [...]

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