Burlina AB - Search Results

1

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

2

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

3

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

4

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

5

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.

6

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.

7

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.

8

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

9

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

10

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.

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