Associated Papers
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.
Vega AI et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.
Bernstein DL et al.
Journal of Hepatology, 2013
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