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Page 1
Treatable neurotransmitter deficiency in mild phenylketonuria.
Bonafé L, Blau N, Burlina AP, Romstad A, Güttler F, Burlina AB. Bonafé L, et al. Among authors: burlina ab, burlina ap. Neurology. 2001 Sep 11;57(5):908-11. doi: 10.1212/wnl.57.5.908. Neurology. 2001. PMID: 11552030
Hypoacetylaspartia: clinical and biochemical follow-up of a patient.
Burlina AP, Schmitt B, Engelke U, Wevers RA, Burlina AB, Boltshauser E. Burlina AP, et al. Among authors: burlina ab. Adv Exp Med Biol. 2006;576:283-7; discussion 361-3. doi: 10.1007/0-387-30172-0_20. Adv Exp Med Biol. 2006. PMID: 16802720 No abstract available.
N-acetylaspartylglutamate (NAAG) in Pelizaeus-Merzbacher disease.
Burlina AP, Ferrari V, Burlina AB, Ermani M, Boespflug-Tanguy O, Bertini E; Clinical European Network on Brain Dysmyelinating Disease. Burlina AP, et al. Among authors: burlina ab. Adv Exp Med Biol. 2006;576:353-9; discussion 361-3. doi: 10.1007/0-387-30172-0_26. Adv Exp Med Biol. 2006. PMID: 16802726 No abstract available.
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
Kölker S, Christensen E, Leonard JV, Greenberg CR, Burlina AB, Burlina AP, Dixon M, Duran M, Goodman SI, Koeller DM, Müller E, Naughten ER, Neumaier-Probst E, Okun JG, Kyllerman M, Surtees RA, Wilcken B, Hoffmann GF, Burgard P. Kölker S, et al. Among authors: burlina ab, burlina ap. J Inherit Metab Dis. 2007 Feb;30(1):5-22. doi: 10.1007/s10545-006-0451-4. Epub 2007 Jan 3. J Inherit Metab Dis. 2007. PMID: 17203377
Diagnosis and management of glutaric aciduria type I--revised recommendations.
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P. Kölker S, et al. Among authors: burlina ab, burlina ap. J Inherit Metab Dis. 2011 Jun;34(3):677-94. doi: 10.1007/s10545-011-9289-5. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431622 Free PMC article. Review.
113 results