The Utility of CSF for the Diagnosis of Primary and Secondary Monoamine Neurotransmitter Deficiencies

著者: Burlina, A.B., Celato, A., Polo, G., Edini, C., Burlina, A.P.
出版年 EJIFCC (2017)

Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature

著者: Lee, T.‐H., Yang, J.‐T., Lee, J.‐D., Chang, K.‐C., Peng, T.‐I., Chang, T.‐Y., Huang, K.‐L., Liu, C.‐H., Ryu, S.‐J., Burlina, A. P.
出版年 Eur J Neurol (2018)

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype

著者: Reunert, J., Lotz-Havla, A. S., Polo, G., Kannenberg, F., Fobker, M., Griese, M., Mengel, E., Muntau, A. C., Schnabel, P., Sommerburg, O., Borggraefe, I., Dardis, A., Burlina, A. P., Mall, M. A., Ciana, G., Bembi, B., Burlina, A. B., Marquardt, T.
出版年 JIMD Rep (2015)