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Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 84120922.

Metabolic Outcomes of Anaplerotic Dodecanedioic Acid Supplementation in Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficient Fibroblasts

Igor Radzikh, Erica Fatica, Jillian Kodger, Rohan Shah, Ryan Pearce, Yana I. Sandlers

Metabolites. 2021 Aug; 11(8): 538. Published online 2021 Aug 13. doi: 10.3390/metabo11080538

PMCID:: PMC8412092

Abstract Article PDF–1.4M

Select item 81051673.

Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

Deborah Marsden, Camille L. Bedrosian, Jerry Vockley

Genet Med. 2021; 23(5): 816–829. Published online 2021 Jan 25. doi: 10.1038/s41436-020-01070-0

PMCID:: PMC8105167

Abstract Article PDF–706K

Select item 78750874.

Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders

Evgenia Sklirou, Ahmad N. Alodaib, Steven F. Dobrowolski, Al-Walid A. Mohsen, Jerry Vockley

Front Genet. 2020; 11: 598760. Published online 2021 Jan 15. doi: 10.3389/fgene.2020.598760

PMCID:: PMC7875087

Abstract Article PDF–1.1M

Select item 78075215.

Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders

Thomas Zöggeler, Katharina Stock, Monika Jörg-Streller, Johannes Spenger, Vassiliki Konstantopoulou, Miriam Hufgard-Leitner, Sabine Scholl-Bürgi, Daniela Karall

Orphanet J Rare Dis. 2021; 16: 28. Published online 2021 Jan 14. doi: 10.1186/s13023-020-01635-x

PMCID:: PMC7807521

Abstract Article PDF–1.1M

Select item 74229736.

Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement

Patricia L. Hall, Angela Wittenauer, Arthur Hagar

Int J Neonatal Screen. 2020 Mar; 6(1): 20. Published online 2020 Mar 14. doi: 10.3390/ijns6010020

PMCID:: PMC7422973

Abstract Article PDF–1008K

Select item 66612787.

Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan; 2nd report QOL survey

Hideaki Shiraishi, Kenji Yamada, Eishin Oki, Mika Ishige, Toshiyuki Fukao, Yusuke Hamada, Norio Sakai, Fumihiro Ochi, Asami Watanabe, Sanae Kawakami, Kazuyo Kuzume, Kenji Watanabe, Koji Sameshima, Kiyotaka Nakamagoe, Akira Tamaoka, Naoko Asahina, Saki Yokoshiki, Takashi Miyakoshi, Koji Oba, Toshiyuki Isoe, Hiroshi Hayashi, Seiji Yamaguchi, Norihiro Sato

Mol Genet Metab Rep. 2019 Sep; 20: 100496. Published online 2019 Jul 25. doi: 10.1016/j.ymgmr.2019.100496

PMCID:: PMC6661278

Abstract Article PDF–854K

Select item 65451168.

Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial

Melanie B. Gillingham, Stephen B. Heitner, Julie Martin, Sarah Rose, Amy Goldstein, Areeg Hassan El-Gharbawy, Stephanie Deward, Michael R. Lasarev, Jim Pollaro, James P. DeLany, Luke J. Burchill, Bret Goodpaster, James Shoemaker, Dietrich Matern, Cary O. Harding, Jerry Vockley

J Inherit Metab Dis. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: J Inherit Metab Dis. 2017 Nov; 40(6): 831–843. Published online 2017 Sep 4. doi: 10.1007/s10545-017-0085-8

PMCID:: PMC6545116

Abstract Article PDF–977K

Select item 63480529.

Results from a 78-week single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)

Jerry Vockley, Barbara Burton, Gerard T. Berry, Nicola Longo, John Phillips, Amarilis Sanchez-Valle, Pranoot Tanpaiboon, Stephanie Grunewald, Elaine Murphy, Alexandra Bowden, Wencong Chen, Chao-Yin Chen, Jason Cataldo, Deborah Marsden, Emil Kakkis

J Inherit Metab Dis. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: J Inherit Metab Dis. 2019 Jan; 42(1): 169–177. doi: 10.1002/jimd.12038

PMCID:: PMC6348052

Abstract Article PDF–302K

Select item 508322010.

Triheptanoin Treatment in Patients with Pediatric Cardiomyopathy Associated with Long Chain-Fatty Acid Oxidation Disorders

J Vockley, J Charrow, J Ganesh, M Eswara, GA Diaz, E McCracken, R Conway, GM Enns, J Starr, R Wang, JE. Abdenur, J Sanchez-de-Toledo, DL Marsden

Mol Genet Metab. Author manuscript; available in PMC 2017 Nov 1.

Published in final edited form as: Mol Genet Metab. 2016 Nov; 119(3): 223–231. Published online 2016 Aug 27. doi: 10.1016/j.ymgme.2016.08.008

PMCID:: PMC5083220

Abstract Article PDF–570K

Select item 497091011.

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

Loren D.M. Pena, Sandra C. van Calcar, Joyanna Hansen, Mathew J. Edick, Cate Walsh Vockley, Nancy Leslie, Cynthia Cameron, Al-Walid Mohsen, Susan A Berry, Georgianne L Arnold, Jerry Vockley, for the IBEMC

Mol Genet Metab. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Mol Genet Metab. 2016 Aug; 118(4): 272–281. Published online 2016 May 13. doi: 10.1016/j.ymgme.2016.05.007

PMCID:: PMC4970910

Abstract Article PDF–809K

Select item 486477512.

The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency

Eugene Diekman, Monique de Sain-van der Velden, Hans Waterham, Leo Kluijtmans, Peter Schielen, Evert Ben van Veen, Sacha Ferdinandusse, Frits Wijburg, Gepke Visser

JIMD Rep. 2016; 27: 101–106. Published online 2015 Oct 10. doi: 10.1007/8904_2015_476

PMCID:: PMC4864775

Abstract Article PDF–209K

Select item 479008113.

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States

Marcus J. Miller, Lindsay C. Burrage, James B. Gibson, Meghan E. Strenk, Edward J. Lose, David P. Bick, Sarah H. Elsea, V. Reid Sutton, Qin Sun, Brett H. Graham, William J. Craigen, Victor Wei Zhang, Lee-Jun C. Wong

Mol Genet Metab. Author manuscript; available in PMC 2016 Nov 1.

Published in final edited form as: Mol Genet Metab. 2015 Nov; 116(3): 139–145. Published online 2015 Sep 2. doi: 10.1016/j.ymgme.2015.08.011

PMCID:: PMC4790081

Abstract Article PDF–472K

Select item 471263714.

Anaplerotic Treatment of Long-Chain Fat Oxidation Disorders with Triheptanoin: Review of 15 years Experience

Charles R. Roe, Henri Brunengraber

Mol Genet Metab. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: Mol Genet Metab. 2015 Dec; 116(4): 260–268. Published online 2015 Oct 24. doi: 10.1016/j.ymgme.2015.10.005

PMCID:: PMC4712637

Abstract Article PDF–1.1M

Select item 456160315.

Long-Term Major Clinical Outcomes in Patients With Long Chain Fatty Acid Oxidation Disorders Before and After Transition to Triheptanoin Treatment—A Retrospective Chart Review

Jerry Vockley, Deborah Marsden, Elizabeth McCracken, Stephanie DeWard, Amanda Barone, Kristen Hsu, Emil Kakkis

Mol Genet Metab. Author manuscript; available in PMC 2016 Sep 1.

Published in final edited form as: Mol Genet Metab. 2015 Sep-Oct; 116(0): 53–60. Published online 2015 Jun 18. doi: 10.1016/j.ymgme.2015.06.006

Correction in:: volume 116 on page 221

PMCID:: PMC4561603

Abstract Article PDF–1.9M

Select item 454475316.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30