H. Schneider

Unclassified polysaccharidosis of the heart and skeletal muscle in siblings.

C. Bruno, B. Schoser, L. Goldfarb, 2008, Molecular genetics and metabolism.

Citrin deficiency mimicking mitochondrial depletion syndrome

M. Schmidts, T. Haack, S. Grünert, 2020, BMC Pediatrics.

Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children

R. Horvath, B. Schoser, B. Czermin, 2011, Neuromuscular Disorders.