Burlina AB - Search Results

1

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. Among authors: burlina ab. 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

2

Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect.

Bennett MJ, Sherwood WG, Gibson KM, Burlina AB. Bennett MJ, et al. Among authors: burlina ab. J Inherit Metab Dis. 1993;16(3):560-2. doi: 10.1007/BF00711681. J Inherit Metab Dis. 1993. PMID: 7609452 Clinical Trial. No abstract available.

3

Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Bennett MJ, Weinberger MJ, Sherwood WG, Burlina AB. Bennett MJ, et al. Among authors: burlina ab. J Inherit Metab Dis. 1994;17(3):283-6. doi: 10.1007/BF00711808. J Inherit Metab Dis. 1994. PMID: 7807934 No abstract available.

4

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

5

Medium-chain acyl-CoA dehydrogenase deficiency presenting in the neonatal period: the first Italian case.

Burlina AB, Bennett MJ, Gregersen N, Dalla Barba B, Zacchello F. Burlina AB, et al. Eur J Pediatr. 1995 Nov;154(11):940-1. doi: 10.1007/BF01957515. Eur J Pediatr. 1995. PMID: 8582415 No abstract available.

6

Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation.

Bennett MJ, Weinberger MJ, Kobori JA, Rinaldo P, Burlina AB. Bennett MJ, et al. Among authors: burlina ab. Pediatr Res. 1996 Jan;39(1):185-8. doi: 10.1203/00006450-199601000-00031. Pediatr Res. 1996. PMID: 8825408

7

Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism.

Burlina AB, Gibson KM, Ruitenbeek W, Bonafè L, Bennett MJ. Burlina AB, et al. J Inherit Metab Dis. 1998 Dec;21(8):864-6. doi: 10.1023/a:1005426920116. J Inherit Metab Dis. 1998. PMID: 9870212 No abstract available.

8

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. Among authors: burlina ab. Clin Chem. 2000 Feb;46(2):149-55. Clin Chem. 2000. PMID: 10657369

9

Quantitative measurement of total and free 3-hydroxy fatty acids in serum or plasma samples: short-chain 3-hydroxy fatty acids are not esterified.

Jones PM, Burlina AB, Bennett MJ. Jones PM, et al. Among authors: burlina ab. J Inherit Metab Dis. 2000 Nov;23(7):745-50. doi: 10.1023/a:1005643201489. J Inherit Metab Dis. 2000. PMID: 11117435

10

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. Among authors: burlina ab. Eur J Pediatr. 1992 Feb;151(2):121-6. doi: 10.1007/BF01958956. Eur J Pediatr. 1992. PMID: 1537353

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