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Case 2: Abdominal Distention in a Term Infant with Unilateral Ventriculomegaly.

Lyle ANJ, Byrne BJ.

Neoreviews. 2019 Oct;20(10):e594-e596. doi: 10.1542/neo.20-10-e594. No abstract available.


Neuromuscular Gene Therapy: Catching the Wave of Positive Early Studies Is Expected to Crest in Product Approvals.

Byrne BJ.

Mol Ther. 2019 Oct 2;27(10):1695-1696. doi: 10.1016/j.ymthe.2019.09.011. Epub 2019 Sep 23. No abstract available.


Interprofessional Educator Development Course for Simulation.

Stephenson E, Poore J, Byrne BJ, Dwyer J, Ebert D, Hasty G, Schroedle K, Turner J, Cooper D.

J Contin Educ Nurs. 2019 Oct 1;50(10):463-468. doi: 10.3928/00220124-20190917-08.


Gender Discrepancies Related to Pediatrician Work-Life Balance and Household Responsibilities.

Starmer AJ, Frintner MP, Matos K, Somberg C, Freed G, Byrne BJ.

Pediatrics. 2019 Oct;144(4). pii: e20182926. doi: 10.1542/peds.2018-2926. Epub 2019 Sep 10.


Gender Differences in Earnings of Early- and Midcareer Pediatricians.

Frintner MP, Sisk B, Byrne BJ, Freed GL, Starmer AJ, Olson LM.

Pediatrics. 2019 Oct;144(4). pii: e20183955. doi: 10.1542/peds.2018-3955. Epub 2019 Sep 10.


Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.

Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, Haselkorn T, James ES, LaRusso LB, Noursalehi M, Rico S, Beggs AH.

Arch Dis Child. 2019 Sep 4. pii: archdischild-2019-317910. doi: 10.1136/archdischild-2019-317910. [Epub ahead of print]


Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy.

Byrne BJ, Fuller DD, Smith BK, Clement N, Coleman K, Cleaver B, Vaught L, Falk DJ, McCall A, Corti M.

Ann Transl Med. 2019 Jul;7(13):290. doi: 10.21037/atm.2019.05.56. Review.


Increased mtDNA Abundance and Improved Function in Human Barth Syndrome Patient Fibroblasts Following AAV-TAZ Gene Delivery.

Suzuki-Hatano S, Sriramvenugopal M, Ramanathan M, Soustek M, Byrne BJ, Cade WT, Kang PB, Pacak CA.

Int J Mol Sci. 2019 Jul 11;20(14). pii: E3416. doi: 10.3390/ijms20143416.


Reduction of Autophagic Accumulation in Pompe Disease Mouse Model Following Gene Therapy.

McCall AL, Stankov SG, Cowen G, Cloutier D, Zhang Z, Yang L, Clement N, Falk DJ, Byrne BJ.

Curr Gene Ther. 2019;19(3):197-207. doi: 10.2174/1566523219666190621113807.


Development of Validated Checklists to Evaluate Clinical Specialists in Pediatric ECMO Emergencies Using Delphi Method.

Abulebda K, Hocutt GRNC, Gray BW, Ahmed RA, Slaven JE, Malin S, Wetzel EA, Medsker BH, Byrne BJ.

ASAIO J. 2019 Mar 27. doi: 10.1097/MAT.0000000000000988. [Epub ahead of print]


Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome.

Cade WT, Bohnert KL, Peterson LR, Patterson BW, Bittel AJ, Okunade AL, de Las Fuentes L, Steger-May K, Bashir A, Schweitzer GG, Chacko SK, Wanders RJ, Pacak CA, Byrne BJ, Reeds DN.

J Inherit Metab Dis. 2019 May;42(3):480-493. doi: 10.1002/jimd.12094. Epub 2019 Apr 11.


AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome.

Suzuki-Hatano S, Saha M, Soustek MS, Kang PB, Byrne BJ, Cade WT, Pacak CA.

Mol Ther Methods Clin Dev. 2019 Jan 25;13:167-179. doi: 10.1016/j.omtm.2019.01.007. eCollection 2019 Jun 14.


Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.

Pena LDM, Barohn RJ, Byrne BJ, Desnuelle C, Goker-Alpan O, Ladha S, Laforêt P, Mengel KE, Pestronk A, Pouget J, Schoser B, Straub V, Trivedi J, Van Damme P, Vissing J, Young P, Kacena K, Shafi R, Thurberg BL, Culm-Merdek K, van der Ploeg AT; NEO1 Investigator Group.

Neuromuscul Disord. 2019 Mar;29(3):167-186. doi: 10.1016/j.nmd.2018.12.004. Epub 2018 Dec 17.


Cough Effectiveness and Pulmonary Hygiene Practices in Patients with Pompe Disease.

Pitts T, Bordelon R, Huff A, Byrne BJ, Smith BK.

Lung. 2019 Feb;197(1):1-8. doi: 10.1007/s00408-018-0171-1. Epub 2018 Oct 25.


Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial.

Chien YH, Lee NC, Tseng SH, Tai CH, Muramatsu SI, Byrne BJ, Hwu WL.

Lancet Child Adolesc Health. 2017 Dec;1(4):265-273. doi: 10.1016/S2352-4642(17)30125-6. Epub 2017 Oct 23.


AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome.

Suzuki-Hatano S, Saha M, Rizzo SA, Witko RL, Gosiker BJ, Ramanathan M, Soustek MS, Jones MD, Kang PB, Byrne BJ, Cade WT, Pacak CA.

Hum Gene Ther. 2019 Feb;30(2):139-154. doi: 10.1089/hum.2018.020. Epub 2018 Oct 3.


Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease.

Keeler AM, Zieger M, Todeasa SH, McCall AL, Gifford JC, Birsak S, Choudhury SR, Byrne BJ, Sena-Esteves M, ElMallah MK.

Hum Gene Ther. 2019 Jan;30(1):57-68. doi: 10.1089/hum.2018.016. Epub 2018 Jul 25.


Peak oxygen uptake (VO2peak) across childhood, adolescence and young adulthood in Barth syndrome: Data from cross-sectional and longitudinal studies.

Cade WT, Bohnert KL, Reeds DN, Peterson LR, Bittel AJ, Bashir A, Byrne BJ, Taylor CL.

PLoS One. 2018 May 24;13(5):e0197776. doi: 10.1371/journal.pone.0197776. eCollection 2018.


Longitudinal timed function tests in Duchenne muscular dystrophy: ImagingDMD cohort natural history.

Arora H, Willcocks RJ, Lott DJ, Harrington AT, Senesac CR, Zilke KL, Daniels MJ, Xu D, Tennekoon GI, Finanger EL, Russman BS, Finkel RS, Triplett WT, Byrne BJ, Walter GA, Sweeney HL, Vandenborne K.

Muscle Nerve. 2018 Nov;58(5):631-638. doi: 10.1002/mus.26161. Epub 2018 Jul 24.


Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study.

Bittel AJ, Bohnert KL, Reeds DN, Peterson LR, de Las Fuentes L, Corti M, Taylor CL, Byrne BJ, Cade WT.

JIMD Rep. 2018;41:63-72. doi: 10.1007/8904_2018_102. Epub 2018 Apr 14.


Skeletal muscle magnetic resonance biomarkers correlate with function and sentinel events in Duchenne muscular dystrophy.

Barnard AM, Willcocks RJ, Finanger EL, Daniels MJ, Triplett WT, Rooney WD, Lott DJ, Forbes SC, Wang DJ, Senesac CR, Harrington AT, Finkel RS, Russman BS, Byrne BJ, Tennekoon GI, Walter GA, Sweeney HL, Vandenborne K.

PLoS One. 2018 Mar 19;13(3):e0194283. doi: 10.1371/journal.pone.0194283. eCollection 2018.


Safety First: Perspective on Patient-Centered Development of AAV Gene Therapy Products.

Byrne BJ.

Mol Ther. 2018 Mar 7;26(3):669-671. doi: 10.1016/j.ymthe.2018.02.009. Epub 2018 Mar 1. No abstract available.


Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease.

Corti M, Liberati C, Smith BK, Lawson LA, Tuna IS, Conlon TJ, Coleman KE, Islam S, Herzog RW, Fuller DD, Collins SW, Byrne BJ.

Hum Gene Ther Clin Dev. 2017 Dec;28(4):208-218. doi: 10.1089/humc.2017.146.


A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.

Beggs AH, Byrne BJ, De Chastonay S, Haselkorn T, Hughes I, James ES, Kuntz NL, Simon J, Swanson LC, Yang ML, Yu ZF, Yum SW, Prasad S.

Muscle Nerve. 2018 Apr;57(4):550-560. doi: 10.1002/mus.26018. Epub 2017 Dec 22.


13C/31P MRS Metabolic Biomarkers of Disease Progression and Response to AAV Delivery of hGAA in a Mouse Model of Pompe Disease.

Baligand C, Todd AG, Lee-McMullen B, Vohra RS, Byrne BJ, Falk DJ, Walter GA.

Mol Ther Methods Clin Dev. 2017 Sep 8;7:42-49. doi: 10.1016/j.omtm.2017.09.002. eCollection 2017 Dec 15.


A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice.

Lee NC, Hwu WL, Muramatsu SI, Falk DJ, Byrne BJ, Cheng CH, Shih NC, Chang KL, Tsai LK, Chien YH.

Mol Neurobiol. 2018 Jun;55(6):5299-5309. doi: 10.1007/s12035-017-0763-4. Epub 2017 Sep 11.


A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.

Byrne BJ, Geberhiwot T, Barshop BA, Barohn R, Hughes D, Bratkovic D, Desnuelle C, Laforet P, Mengel E, Roberts M, Haroldsen P, Reilley K, Jayaram K, Yang K, Walsh L; POM-001/002 Investigators.

Orphanet J Rare Dis. 2017 Aug 24;12(1):144. doi: 10.1186/s13023-017-0693-2.


Immune Modulatory Cell Therapy for Hemophilia B Based on CD20-Targeted Lentiviral Gene Transfer to Primary B Cells.

Wang X, Herzog RW, Byrne BJ, Kumar SRP, Zhou Q, Buchholz CJ, Biswas M.

Mol Ther Methods Clin Dev. 2017 Mar 29;5:76-82. doi: 10.1016/j.omtm.2017.03.005. eCollection 2017 Jun 16.


Airway smooth muscle dysfunction in Pompe (Gaa-/- ) mice.

Keeler AM, Liu D, Zieger M, Xiong L, Salemi J, Bellvé K, Byrne BJ, Fuller DD, ZhuGe R, ElMallah MK.

Am J Physiol Lung Cell Mol Physiol. 2017 Jun 1;312(6):L873-L881. doi: 10.1152/ajplung.00568.2016. Epub 2017 Mar 23.


Attitudes and Experiences of Early and Midcareer Pediatricians With the Maintenance of Certification Process.

Byrne BJ, Frintner MP, Abraham HN, Starmer AJ.

Acad Pediatr. 2017 Jul;17(5):487-496. doi: 10.1016/j.acap.2016.10.019. Epub 2017 Feb 24.


Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome.

Bashir A, Bohnert KL, Reeds DN, Peterson LR, Bittel AJ, de Las Fuentes L, Pacak CA, Byrne BJ, Cade WT.

Physiol Rep. 2017 Feb;5(3). pii: e13130. doi: 10.14814/phy2.13130.


Sodium Chloride Enhances Recombinant Adeno-Associated Virus Production in a Serum-Free Suspension Manufacturing Platform Using the Herpes Simplex Virus System.

Adamson-Small L, Potter M, Byrne BJ, Clément N.

Hum Gene Ther Methods. 2017 Feb;28(1):1-14. doi: 10.1089/hgtb.2016.151.


Transfer of Therapeutic Genes into Fetal Rhesus Monkeys Using Recombinant Adeno-Associated Type I Viral Vectors.

Conlon TJ, Mah CS, Pacak CA, Rucker Henninger MB, Erger KE, Jorgensen ML, Lee CC, Tarantal AF, Byrne BJ.

Hum Gene Ther Clin Dev. 2016 Dec;27(4):152-159.


Transcriptome assessment of the Pompe (Gaa-/-) mouse spinal cord indicates widespread neuropathology.

Turner SMF, Falk DJ, Byrne BJ, Fuller DD.

Physiol Genomics. 2016 Nov 1;48(11):785-794. doi: 10.1152/physiolgenomics.00075.2016. Epub 2016 Sep 9.


Neonatal outreach simulation.

Byrne BJ, Manhas D.

Semin Perinatol. 2016 Nov;40(7):480-488. doi: 10.1053/j.semperi.2016.08.009. Epub 2016 Sep 28. Review.


Combination therapy for inhibitor reversal in haemophilia A using monoclonal anti-CD20 and rapamycin.

Biswas M, Rogers GL, Sherman A, Byrne BJ, Markusic DM, Jiang H, Herzog RW.

Thromb Haemost. 2017 Jan 5;117(1):33-43. doi: 10.1160/TH16-05-0404. Epub 2016 Sep 29.


Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.

Lee NC, Lee YM, Chen PW, Byrne BJ, Hwu WL.

Hum Mol Genet. 2016 Dec 1;25(23):5142-5147. doi: 10.1093/hmg/ddw323.


Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity.

Smith BK, Martin AD, Lawson LA, Vernot V, Marcus J, Islam S, Shafi N, Corti M, Collins SW, Byrne BJ.

Exp Neurol. 2017 Jan;287(Pt 2):216-224. doi: 10.1016/j.expneurol.2016.07.013. Epub 2016 Jul 21.


Generation and characterization of anti-Adeno-associated virus serotype 8 (AAV8) and anti-AAV9 monoclonal antibodies.

Tseng YS, Vliet KV, Rao L, McKenna R, Byrne BJ, Asokan A, Agbandje-McKenna M.

J Virol Methods. 2016 Oct;236:105-110. doi: 10.1016/j.jviromet.2016.07.009. Epub 2016 Jul 14.


An injectable capillary-like microstructured alginate hydrogel improves left ventricular function after myocardial infarction in rats.

Rocca DG, Willenberg BJ, Qi Y, Simmons CS, Rubiano A, Ferreira LF, Huo T, Petersen JW, Ruchaya PJ, Wate PS, Wise EA, Handberg EM, Cogle CR, Batich CD, Byrne BJ, Pepine CJ.

Int J Cardiol. 2016 Oct 1;220:149-54. doi: 10.1016/j.ijcard.2016.06.158. Epub 2016 Jun 25.


Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study.

Cade WT, Reeds DN, Peterson LR, Bohnert KL, Tinius RA, Benni PB, Byrne BJ, Taylor CL.

JIMD Rep. 2017;32:15-24. doi: 10.1007/8904_2016_553. Epub 2016 Jun 11.


A scalable method for the production of high-titer and high-quality adeno-associated type 9 vectors using the HSV platform.

Adamson-Small L, Potter M, Falk DJ, Cleaver B, Byrne BJ, Clément N.

Mol Ther Methods Clin Dev. 2016 May 11;3:16031. doi: 10.1038/mtm.2016.31. eCollection 2016.


Neuropathology in respiratory-related motoneurons in young Pompe (Gaa(-/-)) mice.

Turner SM, Hoyt AK, ElMallah MK, Falk DJ, Byrne BJ, Fuller DD.

Respir Physiol Neurobiol. 2016 Jun 15;227:48-55. doi: 10.1016/j.resp.2016.02.007. Epub 2016 Feb 26.


Diaphragm Pacing as a Rehabilitative Tool for Patients With Pompe Disease Who Are Ventilator-Dependent: Case Series.

Smith BK, Fuller DD, Martin AD, Lottenberg L, Islam S, Lawson LA, Onders RP, Byrne BJ.

Phys Ther. 2016 May;96(5):696-703. doi: 10.2522/ptj.20150122. Epub 2016 Feb 18.


Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort.

Willcocks RJ, Rooney WD, Triplett WT, Forbes SC, Lott DJ, Senesac CR, Daniels MJ, Wang DJ, Harrington AT, Tennekoon GI, Russman BS, Finanger EL, Byrne BJ, Finkel RS, Walter GA, Sweeney HL, Vandenborne K.

Ann Neurol. 2016 Apr;79(4):535-47. doi: 10.1002/ana.24599. Epub 2016 Feb 19.


Targeted approaches to induce immune tolerance for Pompe disease therapy.

Doerfler PA, Nayak S, Corti M, Morel L, Herzog RW, Byrne BJ.

Mol Ther Methods Clin Dev. 2016 Jan 27;3:15053. doi: 10.1038/mtm.2015.53. eCollection 2016. Review.


Adeno-Associated Virus Type 2 and Hepatocellular Carcinoma?

Berns KI, Byrne BJ, Flotte TR, Gao G, Hauswirth WW, Herzog RW, Muzyczka N, VandenDriessche T, Xiao X, Zolotukhin S, Srivastava A.

Hum Gene Ther. 2015 Dec;26(12):779-81. doi: 10.1089/hum.2015.29014.kib. No abstract available.


Altered activation of the diaphragm in late-onset Pompe disease.

Smith BK, Corti M, Martin AD, Fuller DD, Byrne BJ.

Respir Physiol Neurobiol. 2016 Feb 1;222:11-5. doi: 10.1016/j.resp.2015.11.013. Epub 2015 Nov 28.


Copackaged AAV9 Vectors Promote Simultaneous Immune Tolerance and Phenotypic Correction of Pompe Disease.

Doerfler PA, Todd AG, Clément N, Falk DJ, Nayak S, Herzog RW, Byrne BJ.

Hum Gene Ther. 2016 Jan;27(1):43-59. doi: 10.1089/hum.2015.103.


Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy.

Mendell JR, Goemans N, Lowes LP, Alfano LN, Berry K, Shao J, Kaye EM, Mercuri E; Eteplirsen Study Group and Telethon Foundation DMD Italian Network.

Ann Neurol. 2016 Feb;79(2):257-71. doi: 10.1002/ana.24555. Epub 2016 Jan 8.

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