Year: 2012

• Malicdan, M. C. & Nishino, I. (2012). Autophagy in lysosomal myopathies. Brain Pathol., 22, 82-88. [More] [Bibtex]
• Moreland, R. J., Higgins, S., Zhou, A., VanStraten, P., Cauthron, R. D., Brem, M. et al. (2012). Species-specific differences in the processing of acid α-glucosidase are due to the amino acid identity at position 201. Gene, 491, 25-30. [More] [Bibtex]
• Bonilla-Palomas, J. L., Gamez-Lopez, A. L., Tejero-Hernandez, M. A., Tejero-Mateo, I. & Lopez-Lopez, J. (2012). When Should We Start Enzyme Replacement Therapy for Infantile Pompe Disease With Severe Cardiomyopathy?. Rev Esp Cardiol, 65, 100-102. [More] [Bibtex]

Year: 2011

• Tsuburaya, R. S., Monma, K., Oya, Y., Nakayama, T., Fukuda, T., Sugie, H. et al. (2011). Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology. Neuromuscul Disord. [More] [Bibtex]
• Ross, L. F. (2011). Newborn screening for lysosomal storage diseases: an ethical and policy analysis. J Inherit Metab Dis. [More] [Bibtex]
• Papadimas, G. K., Spengos, K., Papadopoulos, C. & Manta, P. (2011). Late Onset Glycogen Storage Disease Type II: Pitfalls in the Diagnosis. Eur Neurol, 67, 65-68. [More] [Bibtex]
• Shimada, Y., Kobayashi, H., Kawagoe, S., Aoki, K., Kaneshiro, E., Shimizu, H. et al. (2011). T mutation. Mol. Genet. Metab., 104, 566-573. [More] [Bibtex]
• de Vries, J. M., Brugma, J. D., Ozkan, L., Steegers, E. A., Reuser, A. J., van Doorn, P. A. et al. (2011). First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease. Mol. Genet. Metab., 104, 552-555. [More] [Bibtex]
• Oda, E., Tanaka, T., Migita, O., Kosuga, M., Fukushi, M., Okumiya, T. et al. (2011). Newborn screening for Pompe disease in Japan. Mol. Genet. Metab., 104, 560-565. [More] [Bibtex]
• Dubrovsky, A., Corderi, J., Lin, M., Kishnani, P. S. & Jones, H. N. (2011). Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation. Muscle Nerve, 44, 897-901. [More] [Bibtex]