Boriack RL - 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: boriack rl. 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

Mitochondrial damage results in a reversible increase in lysosomal storage material in lymphoblasts from patients with juvenile neuronal ceroid-lipofuscinosis (Batten Disease).

Boriack RL, Cortinas E, Bennett MJ. Boriack RL, et al. Am J Med Genet. 1995 Jun 5;57(2):301-3. doi: 10.1002/ajmg.1320570238. Am J Med Genet. 1995. PMID: 7668350

3

Erythrocyte membrane reacylation in juvenile neuronal ceroid-lipofuscinosis: measurement of membrane-bound carnitine palmitoyl transferase, acyl-CoA synthetase, and lysophospholipid: acyl-CoA acyltransferase activities.

Bennett MJ, Boriack RL. Bennett MJ, et al. Among authors: boriack rl. Am J Med Genet. 1995 Jun 5;57(2):304-6. doi: 10.1002/ajmg.1320570239. Am J Med Genet. 1995. PMID: 7668351

4

In-utero and post-delivery supplementation of motor neuron degeneration mutant mice with polyunsaturated fatty acids does not alter the clinical or pathological course.

Bennett MJ, Boriack RL, Birch DG. Bennett MJ, et al. Among authors: boriack rl. Neuropediatrics. 1997 Feb;28(1):82-4. doi: 10.1055/s-2007-973678. Neuropediatrics. 1997. PMID: 9151333

5

Polyunsaturated fatty acids reverse the lysosomal storage and accumulation of subunit 9 of mitochondrial F1F0-ATP synthase in cultured lymphoblasts from patients with Batten disease.

Bennett MJ, Boriack RL, Boustany RM. Bennett MJ, et al. Among authors: boriack rl. J Inherit Metab Dis. 1997 Jul;20(3):457-60. doi: 10.1023/a:1005387608456. J Inherit Metab Dis. 1997. PMID: 9266381 No abstract available.

6

Tissue expression and subcellular localization of CLN3, the Batten disease protein.

Margraf LR, Boriack RL, Routheut AA, Cuppen I, Alhilali L, Bennett CJ, Bennett MJ. Margraf LR, et al. Among authors: boriack rl. Mol Genet Metab. 1999 Apr;66(4):283-9. doi: 10.1006/mgme.1999.2830. Mol Genet Metab. 1999. PMID: 10191116

7

Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation.

Bennett MJ, Spotswood SD, Ross KF, Comfort S, Koonce R, Boriack RL, IJlst L, Wanders RJ. Bennett MJ, et al. Among authors: boriack rl. Pediatr Dev Pathol. 1999 Jul-Aug;2(4):337-45. doi: 10.1007/s100249900132. Pediatr Dev Pathol. 1999. PMID: 10347277

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: boriack rl. Clin Chem. 2000 Feb;46(2):149-55. Clin Chem. 2000. PMID: 10657369

9

Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study.

Treacy EP, Lambert DM, Barnes R, Boriack RL, Vockley J, O'brien LK, Jones PM, Bennett MJ. Treacy EP, et al. Among authors: boriack rl. J Pediatr. 2000 Aug;137(2):257-9. doi: 10.1067/mpd.2000.107467. J Pediatr. 2000. PMID: 10931422

10

Accumulation of free 3-hydroxy fatty acids in the culture media of fibroblasts from patients deficient in long-chain l-3-hydroxyacyl-CoA dehydrogenase: a useful diagnostic aid.

Jones PM, Moffitt M, Joseph D, Harthcock PA, Boriack RL, Ibdah JA, Strauss AW, Bennett MJ. Jones PM, et al. Among authors: boriack rl. Clin Chem. 2001;47(7):1190-4. Clin Chem. 2001. PMID: 11427448

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

32 results

Search Page

Filters