Burlina AB - Search Results

1

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

Burlina AB, Polo G, Salviati L, Duro G, Zizzo C, Dardis A, Bembi B, Cazzorla C, Rubert L, Zordan R, Desnick RJ, Burlina AP. Burlina AB, et al. Among authors: burlina ap. J Inherit Metab Dis. 2018 Mar;41(2):209-219. doi: 10.1007/s10545-017-0098-3. Epub 2017 Nov 15. J Inherit Metab Dis. 2018. PMID: 29143201

2

Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: effect of biotin supplementation.

Burlina AB, Dermikol M, Mantau A, Piovan S, Grazian L, Zacchello F, Shin Y. Burlina AB, et al. J Inherit Metab Dis. 1996;19(2):209-12. doi: 10.1007/BF01799431. J Inherit Metab Dis. 1996. PMID: 8739967 No abstract available.

3

Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment.

Burlina AB, Bonafé L, Ferrari V, Suppiej A, Zacchello F, Burlina AP. Burlina AB, et al. Among authors: burlina ap. J Inherit Metab Dis. 2000 Jun;23(4):313-6. doi: 10.1023/a:1005694122277. J Inherit Metab Dis. 2000. PMID: 10896282 No abstract available.

4

Propionic acidaemia with basal ganglia stroke: treatment of acute extrapyramidal symptoms with L-DOPA.

Burlina AP, Baracchini C, Carollo C, Burlina AB. Burlina AP, et al. Among authors: burlina ab. J Inherit Metab Dis. 2001 Oct;24(5):596-8. doi: 10.1023/a:1012471928628. J Inherit Metab Dis. 2001. PMID: 11757587

5

Treatment of extrapyramidal symptoms in a patient with homozygous homocystinuria.

Burlina AP, Edini C, Burlina AB. Burlina AP, et al. Among authors: burlina ab. J Inherit Metab Dis. 2002 May;25(2):135-6. doi: 10.1023/a:1015684912709. J Inherit Metab Dis. 2002. PMID: 12118530 No abstract available.

6

Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria.

Burlina AP, Manara R, Calderone M, Catuogno S, Burlina AB. Burlina AP, et al. Among authors: burlina ab. J Inherit Metab Dis. 2003;26(5):417-22. doi: 10.1023/a:1025106909213. J Inherit Metab Dis. 2003. PMID: 14518823

7

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

8

Lysosomal leukocyte beta-D-glucuronidase during enzyme replacement therapy in Fabry disease.

Goi G, Massaccesi L, Burlina AP, Baquero Herrera CJ, Lombardo A, Tettamanti G, Burlina AB. Goi G, et al. Among authors: burlina ab, burlina ap. Biochim Biophys Acta. 2005 Sep 25;1741(3):300-6. doi: 10.1016/j.bbadis.2005.05.002. Biochim Biophys Acta. 2005. PMID: 15967645 Free article.

9

An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient.

Burlina AB, Peduto A, Di Palma A, Bellizzi A, Sperlì D, Morrone A, Burlina AP. Burlina AB, et al. Among authors: burlina ap. J Inherit Metab Dis. 2006 Feb;29(1):179-81. doi: 10.1007/s10545-006-0193-3. J Inherit Metab Dis. 2006. PMID: 16601886

10

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.

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