GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease
Henneke, M, Combes, P, Diekmann, S, Bertini, E, Brockmann, K, Burlina, A P, Kaiser, J, Ohlenbusch, A, Plecko, B, Rodriguez, D, Boespflug-Tanguy, O, Gärtner, J
Published in Neurology (04.03.2008)
Published in Neurology (04.03.2008)
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Journal Article
Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)
Kölker, S., Christensen, E., Leonard, J. V., Greenberg, C. R., Burlina, A. B., Burlina, A. P., Dixon, M., Duran, M., Goodman, S. I., Koeller, D. M., Müller, E., Naughten, E. R., Neumaier‐Probst, E., Okun, J. G., Kyllerman, M., Surtees, R. A., Wilcken, B., Hoffmann, G. F., Burgard, P.
Published in Journal of inherited metabolic disease (01.02.2007)
Published in Journal of inherited metabolic disease (01.02.2007)
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Journal Article
The pulvinar sign: frequency and clinical correlations in Fabry disease
Burlina, A. P., Manara, R., Caillaud, C., Laissy, J.-P., Severino, M., Klein, I., Burlina, A., Lidove, O.
Published in Journal of neurology (01.05.2008)
Published in Journal of neurology (01.05.2008)
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Journal Article
Central nervous system involvement in Anderson–Fabry disease: a clinical and MRI retrospective study
Buechner, S, Moretti, M, Burlina, A P, Cei, G, Manara, R, Ricci, R, Mignani, R, Parini, R, Di Vito, R, Giordano, G P, Simonelli, P, Siciliano, G, Borsini, W
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2008)
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2008)
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Journal Article
Wernicke-like encephalopathy during classic maple syrup urine disease decompensation
Manara, R., Del Rizzo, M., Burlina, A. P., Bordugo, A., Citton, V., Rodriguez-Pombo, P., Ugarte, M., Burlina, A. B.
Published in Journal of inherited metabolic disease (01.05.2012)
Published in Journal of inherited metabolic disease (01.05.2012)
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Journal Article
Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment
Burlina, A. B., Bonafé, L., Ferrari, V., Suppiej, A., Zacchello, F., Burlina, A. P.
Published in Journal of inherited metabolic disease (01.06.2000)
Published in Journal of inherited metabolic disease (01.06.2000)
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Journal Article
Malignant brain tumors in patients with glutaric aciduria type I
Serrano Russi, A., Donoghue, S., Boneh, A., Manara, R., Burlina, A.B., Burlina, A.P.
Published in Molecular genetics and metabolism (01.11.2018)
Published in Molecular genetics and metabolism (01.11.2018)
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Journal Article
Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature
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.
Published in European journal of neurology (01.03.2019)
Published in European journal of neurology (01.03.2019)
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Journal Article
Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: Structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene
Viggiano, E., Marabotti, A., Burlina, A.P., Cazzorla, C., D'Apice, M.R., Giordano, L., Fasan, I., Novelli, G., Facchiano, A., Burlina, A.B.
Published in Gene (01.04.2015)
Published in Gene (01.04.2015)
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Journal Article
Follow-up of a child with hypoacetylaspartia
Boltshauser, E, Schmitt, B, Wevers, R A, Engelke, U, Burlina, A B, Burlina, A P
Published in Neuropediatrics (01.08.2004)
Published in Neuropediatrics (01.08.2004)
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Journal Article
Treatable neurotransmitter deficiency in mild phenylketonuria
Bonafé, L, Blau, N, Burlina, A P, Romstad, A, Güttler, F, Burlina, A B
Published in Neurology (11.09.2001)
Published in Neurology (11.09.2001)
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Journal Article
Management of movement disorders in glutaryl‐CoA dehydrogenase deficiency: Anticholinergic drugs and botulinum toxin as additional therapeutic options
Burlina, A. P., Zara, G., Hoffmann, G. F., Zschocke, J., Burlina, A. B.
Published in Journal of inherited metabolic disease (01.01.2004)
Published in Journal of inherited metabolic disease (01.01.2004)
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Journal Article
Treatment of extrapyramidal symptoms in a patient with homozygous homocystinuria
Burlina, A. P., Edini, C., Burlina, A. B.
Published in Journal of inherited metabolic disease (01.05.2002)
Published in Journal of inherited metabolic disease (01.05.2002)
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Journal Article
N-acetylaspartylglutamate in Canavan disease : an adverse effector?
BURLINA, A. P, FERRARI, V, DIVRY, P, GRADOWSKA, W, JAKOBS, C, BENNETT, M. J, SEWELL, A. C, DIONISI-VICI, C, BURLINA, A. B
Published in European journal of pediatrics (01.05.1999)
Published in European journal of pediatrics (01.05.1999)
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Journal Article
Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine
Matalon, R., Michals‐Matalon, K., Bhatia, G., Burlina, A. B., Burlina, A. P., Braga, C., Fiori, L., Giovannini, M., Grechanina, E., Novikov, P., Grady, J., Tyring, S. K., Guttler, F.
Published in Journal of inherited metabolic disease (01.04.2007)
Published in Journal of inherited metabolic disease (01.04.2007)
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Journal Article
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype
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.
Published in JIMD Reports, Volume 23 (2015)
Published in JIMD Reports, Volume 23 (2015)
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Book Chapter
Journal Article
Mast Cells Contain Large Quantities of Secretagogue‐Sensitive N‐Acetylaspartate
Burlina, Alessandro P., Ferrari, Vanni, Facci, Laura, Skaper, Stephen D., Burlina, Alberto B.
Published in Journal of neurochemistry (01.09.1997)
Published in Journal of neurochemistry (01.09.1997)
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