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Involvement of erythrocyte calpain in glycine- and carnitine-treated isovaleric acidemia.
Salamino F, Di Lisa F, Burlina AB, Menabŏ R, Barbato R, De Tullio R, Siliprandi N. Salamino F, et al. Pediatr Res. 1994 Aug;36(2):182-6. doi: 10.1203/00006450-199408000-00008. Pediatr Res. 1994. PMID: 7970932
Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation.
Jones PM, Quinn R, Fennessey PV, Tjoa S, Goodman SI, Fiore S, Burlina AB, Rinaldo P, Boriack RL, Bennett MJ. Jones PM, et al. Clin Chem. 2000 Feb;46(2):149-55. Clin Chem. 2000. PMID: 10657369
Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).
Otto LR, Boriack RL, Marsh DJ, Kum JB, Eng C, Burlina AB, Bennett MJ. Otto LR, et al. Am J Med Genet. 1999 Mar 5;83(1):3-5. doi: 10.1002/(sici)1096-8628(19990305)83:1<3::aid-ajmg2>3.0.co;2-k. Am J Med Genet. 1999. PMID: 10076877
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.
Burlina AB, Dionisi-Vici C, Bennett MJ, Gibson KM, Servidei S, Bertini E, Hale DE, Schmidt-Sommerfeld E, Sabetta G, Zacchello F, et al. Burlina AB, et al. J Pediatr. 1994 Jan;124(1):79-86. doi: 10.1016/s0022-3476(94)70257-8. J Pediatr. 1994. PMID: 8283379
Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Dionisi Vici C, Burlina AB, Bertini E, Bachmann C, Mazziotta MR, Zacchello F, Sabetta G, Hale DE. Dionisi Vici C, et al. J Pediatr. 1991 May;118(5):744-6. doi: 10.1016/s0022-3476(05)80039-3. J Pediatr. 1991. PMID: 2019931 No abstract available.
Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.
Bertini E, Dionisi-Vici C, Garavaglia B, Burlina AB, Sabatelli M, Rimoldi M, Bartuli A, Sabetta G, DiDonato S. Bertini E, et al. Eur J Pediatr. 1992 Feb;151(2):121-6. doi: 10.1007/BF01958956. Eur J Pediatr. 1992. PMID: 1537353
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
Kölker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol J, Martí-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, Hoffmann GF. Kölker S, et al. Pediatr Res. 2006 Jun;59(6):840-7. doi: 10.1203/01.pdr.0000219387.79887.86. Epub 2006 Apr 26. Pediatr Res. 2006. PMID: 16641220
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