Burlina AB - Search Results

1

Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study.

Polo G, Burlina AP, Ranieri E, Colucci F, Rubert L, Pascarella A, Duro G, Tummolo A, Padoan A, Plebani M, Burlina AB. Polo G, et al. Among authors: burlina ab, burlina ap. Clin Chem Lab Med. 2019 Nov 26;57(12):1863-1874. doi: 10.1515/cclm-2018-1301. Clin Chem Lab Med. 2019. PMID: 31091195 Free article.

2

Biochemical markers of hepatic fibrosis.

Plebani M, Burlina A. Plebani M, et al. Clin Biochem. 1991 Jun;24(3):219-39. doi: 10.1016/0009-9120(91)80013-s. Clin Biochem. 1991. PMID: 1651819 Review.

3

Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options.

Burlina AP, Zara G, Hoffmann GF, Zschocke J, Burlina AB. Burlina AP, et al. Among authors: burlina ab. J Inherit Metab Dis. 2004;27(6):911-5. doi: 10.1023/B:BOLI.0000045776.50573.52. J Inherit Metab Dis. 2004. PMID: 15505399

4

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.

5

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.

6

Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene.

Sartori S, Burlina AB, Salviati L, Trevisson E, Toldo I, Laverda AM, Burlina AP. Sartori S, et al. Among authors: burlina ab, burlina ap. Eur J Paediatr Neurol. 2008 Jul;12(4):348-50. doi: 10.1016/j.ejpn.2007.07.011. Epub 2007 Sep 18. Eur J Paediatr Neurol. 2008. PMID: 17881259

7

Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria.

Manara R, Burlina AP, Citton V, Ermani M, Vespignani F, Carollo C, Burlina AB. Manara R, et al. Among authors: burlina ab, burlina ap. Neuroradiology. 2009 Dec;51(12):803-12. doi: 10.1007/s00234-009-0574-z. Epub 2009 Aug 4. Neuroradiology. 2009. PMID: 19652961

8

Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases.

Cazzorla C, Del Rizzo M, Burgard P, Zanco C, Bordugo A, Burlina AB, Burlina AP. Cazzorla C, et al. Among authors: burlina ab, burlina ap. Mol Genet Metab. 2012 May;106(1):25-30. doi: 10.1016/j.ymgme.2012.02.008. Epub 2012 Feb 16. Mol Genet Metab. 2012. PMID: 22398241

9

Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency.

Del Rizzo M, Burlina AP, Sass JO, Beermann F, Zanco C, Cazzorla C, Bordugo A, Giordano L, Manara R, Burlina AB. Del Rizzo M, et al. Among authors: burlina ab, burlina ap. Mol Genet Metab. 2013 Apr;108(4):263-6. doi: 10.1016/j.ymgme.2013.01.011. Epub 2013 Jan 27. Mol Genet Metab. 2013. PMID: 23414711

10

Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria.

Cazzorla C, Cegolon L, Burlina AP, Celato A, Massa P, Giordano L, Polo G, Daniele A, Salvatore F, Burlina AB. Cazzorla C, et al. Among authors: burlina ab, burlina ap. BMC Public Health. 2014 Dec 4;14:1243. doi: 10.1186/1471-2458-14-1243. BMC Public Health. 2014. PMID: 25471331 Free PMC article.

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