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Phosphorylase Kinase Deficiency.

Herbert M, Goldstein JL, Rehder C, Austin S, Kishnani PS, Bali DS.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2011 May 31 [updated 2018 Nov 1].


The progression of the ClinGen gene clinical validity classification over time.

McGlaughon JL, Goldstein JL, Thaxton C, Hemphill SE, Berg JS.

Hum Mutat. 2018 Nov;39(11):1494-1504. doi: 10.1002/humu.23604.


What Makes a Piece of Art or Science a Masterpiece?

Goldstein JL.

Cell. 2018 Sep 20;175(1):1-5. doi: 10.1016/j.cell.2018.08.026. Epub 2018 Sep 11.


Lysosomal cholesterol export reconstituted from fragments of Niemann-Pick C1.

Trinh MN, Brown MS, Seemann J, Goldstein JL, Lu F.

Elife. 2018 Jul 26;7. pii: e38564. doi: 10.7554/eLife.38564.


Hepatitis C Screening in Commercially Insured U.S. Birth-cohort Patients: Factors Associated with Testing and Effect of an EMR-based Screening Alert.

Yeboah-Korang A, Beig MI, Khan MQ, Goldstein JL, Macapinlac DM, Maurer D, Sonnenberg A, Fimmel CJ.

J Transl Int Med. 2018 Jun 26;6(2):82-89. doi: 10.2478/jtim-2018-0012. eCollection 2018 Jun.


Screening Colonoscopy Withdrawal Time Threshold for Adequate Proximal Serrated Polyp Detection Rate.

Patel VD, Thompson WK, Lapin BR, Goldstein JL, Yen EF.

Dig Dis Sci. 2018 Nov;63(11):3084-3090. doi: 10.1007/s10620-018-5187-0. Epub 2018 Jul 4.


BHLHE40, a third transcription factor required for insulin induction of SREBP-1c mRNA in rodent liver.

Tian J, Wu J, Chen X, Guo T, Chen ZJ, Goldstein JL, Brown MS.

Elife. 2018 Jun 27;7. pii: e36826. doi: 10.7554/eLife.36826.


Factors associated with treatment delays in pediatric refractory convulsive status epilepticus.

Sánchez Fernández I, Gaínza-Lein M, Abend NS, Anderson AE, Arya R, Brenton JN, Carpenter JL, Chapman KE, Clark J, Gaillard WD, Glauser TA, Goldstein JL, Goodkin HP, Helseth AR, Jackson MC, Kapur K, Lai YC, McDonough TL, Mikati MA, Nayak A, Peariso K, Riviello JJ Jr, Tasker RC, Tchapyjnikov D, Topjian AA, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG).

Neurology. 2018 May 8;90(19):e1692-e1701. doi: 10.1212/WNL.0000000000005488. Epub 2018 Apr 11.


Mental Health During Residency Training: Assessing the Barriers to Seeking Care.

Aaronson AL, Backes K, Agarwal G, Goldstein JL, Anzia J.

Acad Psychiatry. 2018 Aug;42(4):469-472. doi: 10.1007/s40596-017-0881-3. Epub 2018 Feb 14.


Association of Time to Treatment With Short-term Outcomes for Pediatric Patients With Refractory Convulsive Status Epilepticus.

Gaínza-Lein M, Sánchez Fernández I, Jackson M, Abend NS, Arya R, Brenton JN, Carpenter JL, Chapman KE, Gaillard WD, Glauser TA, Goldstein JL, Goodkin HP, Kapur K, Mikati MA, Peariso K, Tasker RC, Tchapyjnikov D, Topjian AA, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group.

JAMA Neurol. 2018 Apr 1;75(4):410-418. doi: 10.1001/jamaneurol.2017.4382.


Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS.

Mol Genet Metab. 2017 Dec;122(4):189-197. doi: 10.1016/j.ymgme.2017.10.008. Epub 2017 Oct 17.


Starting out as a physician-scientist: the crucial first step on the ladder to success.

Goldstein JL.

J Clin Invest. 2017 Oct 2;127(10):3576. doi: 10.1172/JCI97405. Epub 2017 Oct 2. No abstract available.


Artists Create Puzzles, Scientists Solve Them.

Goldstein JL.

Cell. 2017 Sep 21;171(1):5-9. doi: 10.1016/j.cell.2017.08.022. Epub 2017 Sep 6.


Retrospective on Cholesterol Homeostasis: The Central Role of Scap.

Brown MS, Radhakrishnan A, Goldstein JL.

Annu Rev Biochem. 2018 Jun 20;87:783-807. doi: 10.1146/annurev-biochem-062917-011852. Epub 2017 Aug 25.


Transcranial Doppler Identification of Neurologic Injury during Pediatric Extracorporeal Membrane Oxygenation Therapy.

Rilinger JF, Smith CM, deRegnier RAO, Goldstein JL, Mills MG, Reynolds M, Backer CL, Burrowes DM, Mehta P, Piantino J, Wainwright MS.

J Stroke Cerebrovasc Dis. 2017 Oct;26(10):2336-2345. doi: 10.1016/j.jstrokecerebrovasdis.2017.05.022. Epub 2017 Jun 2.


A randomized trial of the effects of the no-carrageenan diet on ulcerative colitis disease activity.

Bhattacharyya S, Shumard T, Xie H, Dodda A, Varady KA, Feferman L, Halline AG, Goldstein JL, Hanauer SB, Tobacman JK.

Nutr Healthy Aging. 2017 Mar 31;4(2):181-192. doi: 10.3233/NHA-170023.


Cholesterol-induced conformational changes in the sterol-sensing domain of the Scap protein suggest feedback mechanism to control cholesterol synthesis.

Gao Y, Zhou Y, Goldstein JL, Brown MS, Radhakrishnan A.

J Biol Chem. 2017 May 26;292(21):8729-8737. doi: 10.1074/jbc.M117.783894. Epub 2017 Apr 3.


Early Presence of Sleep Spindles on Electroencephalography Is Associated With Good Outcome After Pediatric Cardiac Arrest.

Ducharme-Crevier L, Press CA, Kurz JE, Mills MG, Goldstein JL, Wainwright MS.

Pediatr Crit Care Med. 2017 May;18(5):452-460. doi: 10.1097/PCC.0000000000001137.


Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.

Bali DS, Goldstein JL, Fredrickson K, Austin S, Pendyal S, Rehder C, Kishnani PS.

JIMD Rep. 2017;37:63-72. doi: 10.1007/8904_2017_8. Epub 2017 Mar 12.


Predicting Progression in Barrett's Esophagus: Development and Validation of the Barrett's Esophagus Assessment of Risk Score (BEAR Score).

Brown CS, Lapin B, Goldstein JL, Linn JG, Talamonti MS, Carbray J, Ujiki MB.

Ann Surg. 2018 Apr;267(4):716-720. doi: 10.1097/SLA.0000000000002179.


Refractory status epilepticus in children with and without prior epilepsy or status epilepticus.

Sánchez Fernández I, Jackson MC, Abend NS, Arya R, Brenton JN, Carpenter JL, Chapman KE, Gaillard WD, Gaínza-Lein M, Glauser TA, Goldstein JL, Goodkin HP, Helseth A, Kapur K, McDonough TL, Mikati MA, Peariso K, Riviello J Jr, Tasker RC, Topjian AA, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; pediatric Status Epilepticus Research Group (pSERG).

Neurology. 2017 Jan 24;88(4):386-394. doi: 10.1212/WNL.0000000000003550. Epub 2016 Dec 23.


Triazoles inhibit cholesterol export from lysosomes by binding to NPC1.

Trinh MN, Lu F, Li X, Das A, Liang Q, De Brabander JK, Brown MS, Goldstein JL.

Proc Natl Acad Sci U S A. 2017 Jan 3;114(1):89-94. doi: 10.1073/pnas.1619571114. Epub 2016 Dec 19.


Spectral Electroencephalogram Analysis for the Evaluation of Encephalopathy Grade in Children With Acute Liver Failure.

Press CA, Morgan L, Mills M, Stack CV, Goldstein JL, Alonso EM, Wainwright MS.

Pediatr Crit Care Med. 2017 Jan;18(1):64-72. doi: 10.1097/PCC.0000000000001016.


The Rule of Three for Prizes in Science and the Bold Triptychs of Francis Bacon.

Goldstein JL.

Cell. 2016 Sep 22;167(1):5-8. doi: 10.1016/j.cell.2016.08.040. Epub 2016 Sep 13.


Glycogen Storage Disease Type I.

Bali DS, Chen YT, Austin S, Goldstein JL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Apr 19 [updated 2016 Aug 25].


Insulin induction of SREBP-1c in rodent liver requires LXRα-C/EBPβ complex.

Tian J, Goldstein JL, Brown MS.

Proc Natl Acad Sci U S A. 2016 Jul 19;113(29):8182-7. doi: 10.1073/pnas.1608987113. Epub 2016 Jul 5.


New observation of sialuria prompts detection of liver tumor in previously reported patient.

Champaigne NL, Leroy JG, Kishnani PS, Decaestecker J, Steenkiste E, Chaubey A, Li J, Verslype C, Van Dorpe J, Pollard L, Goldstein JL, Libbrecht L, Basehore M, Chen N, Hu H, Wood T, Friez MJ, Huizing M, Stevenson RE.

Mol Genet Metab. 2016 Jun;118(2):92-9. doi: 10.1016/j.ymgme.2016.04.004. Epub 2016 Apr 16.


Direct Demonstration That Loop1 of Scap Binds to Loop7: A CRUCIAL EVENT IN CHOLESTEROL HOMEOSTASIS.

Zhang Y, Lee KM, Kinch LN, Clark L, Grishin NV, Rosenbaum DM, Brown MS, Goldstein JL, Radhakrishnan A.

J Biol Chem. 2016 Jun 10;291(24):12888-96. doi: 10.1074/jbc.M116.729798. Epub 2016 Apr 11.


Aspirin Use in Secondary Cardiovascular Protection and the Development of Aspirin-Associated Erosions and Ulcers.

Goldstein JL, Scheiman JM, Fort JG, Whellan DJ.

J Cardiovasc Pharmacol. 2016 Aug;68(2):121-6. doi: 10.1097/FJC.0000000000000387.


Development and Feasibility Testing of a Critical Care EEG Monitoring Database for Standardized Clinical Reporting and Multicenter Collaborative Research.

Lee JW, LaRoche S, Choi H, Rodriguez Ruiz AA, Fertig E, Politsky JM, Herman ST, Loddenkemper T, Sansevere AJ, Korb PJ, Abend NS, Goldstein JL, Sinha SR, Dombrowski KE, Ritzl EK, Westover MB, Gavvala JR, Gerard EE, Schmitt SE, Szaflarski JP, Ding K, Haas KF, Buchsbaum R, Hirsch LJ, Wusthoff CJ, Hopp JL, Hahn CD; Critical Care EEG Monitoring Research Consortium (CCEMRC).

J Clin Neurophysiol. 2016 Apr;33(2):133-40. doi: 10.1097/WNP.0000000000000230.


Dual therapy of grazoprevir and elbasvir for the treatment of hepatitis C infection.

Landaverde C, Wells J, Hamner R, Goldstein JL.

Expert Rev Gastroenterol Hepatol. 2016;10(4):419-29. doi: 10.1586/17474124.2016.1147346. Epub 2016 Feb 24. Review.


Long-Term Safety of a Coordinated Delivery Tablet of Enteric-Coated Aspirin 325 mg and Immediate-Release Omeprazole 40 mg for Secondary Cardiovascular Disease Prevention in Patients at GI Risk.

Goldstein JL, Whellan DJ, Scheiman JM, Cryer BL, Eisen GM, Lanas A, Fort JG.

Cardiovasc Ther. 2016 Apr;34(2):59-66. doi: 10.1111/1755-5922.12172.


Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.

Bali DS, Goldstein JL, Rehder C, Kazi ZB, Berrier KL, Dai J, Kishnani PS.

Mol Genet Metab Rep. 2015 Dec 1;5:76-79.


Identification of NPC1 as the target of U18666A, an inhibitor of lysosomal cholesterol export and Ebola infection.

Lu F, Liang Q, Abi-Mosleh L, Das A, De Brabander JK, Goldstein JL, Brown MS.

Elife. 2015 Dec 8;4. pii: e12177. doi: 10.7554/eLife.12177.


A Well-Hung Horse: Sired by Knowledge and Imagination.

Goldstein JL.

Cell. 2015 Sep 10;162(6):1179-82. doi: 10.1016/j.cell.2015.08.039.


Mastery of Status Epilepticus Management via Simulation-Based Learning for Pediatrics Residents.

Malakooti MR, McBride ME, Mobley B, Goldstein JL, Adler MD, McGaghie WC.

J Grad Med Educ. 2015 Jun;7(2):181-6. doi: 10.4300/JGME-D-14-00516.1.


A century of cholesterol and coronaries: from plaques to genes to statins.

Goldstein JL, Brown MS.

Cell. 2015 Mar 26;161(1):161-172. doi: 10.1016/j.cell.2015.01.036. Review.


Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.

Chien YH, Goldstein JL, Hwu WL, Smith PB, Lee NC, Chiang SC, Tolun AA, Zhang H, Vaisnins AE, Millington DS, Kishnani PS, Young SP.

JIMD Rep. 2015;19:67-73. doi: 10.1007/8904_2014_366. Epub 2015 Feb 15.


Reflux control is important in the management of Barrett's Esophagus: results from a retrospective 1,830 patient cohort.

Brown CS, Lapin B, Wang C, Goldstein JL, Linn JG, Denham W, Haggerty SP, Talamonti MS, Howington JA, Carbray J, Ujiki MB.

Surg Endosc. 2015 Dec;29(12):3528-34. doi: 10.1007/s00464-015-4103-3. Epub 2015 Feb 13.


Gastrointestinal injury associated with NSAID use: a case study and review of risk factors and preventative strategies.

Goldstein JL, Cryer B.

Drug Healthc Patient Saf. 2015 Jan 22;7:31-41. doi: 10.2147/DHPS.S71976. eCollection 2015. Review.


Reduced autophagy in livers of fasted, fat-depleted, ghrelin-deficient mice: reversal by growth hormone.

Zhang Y, Fang F, Goldstein JL, Brown MS, Zhao TJ.

Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):1226-31. doi: 10.1073/pnas.1423643112. Epub 2015 Jan 12.


Development and validation of a seizure prediction model in critically ill children.

Yang A, Arndt DH, Berg RA, Carpenter JL, Chapman KE, Dlugos DJ, Gallentine WB, Giza CC, Goldstein JL, Hahn CD, Lerner JT, Loddenkemper T, Matsumoto JH, Nash KB, Payne ET, Sánchez Fernández I, Shults J, Topjian AA, Williams K, Wusthoff CJ, Abend NS.

Seizure. 2015 Feb;25:104-11. doi: 10.1016/j.seizure.2014.09.013. Epub 2014 Oct 5.


Balzac's Unknown Masterpiece: spotting the next big thing in art and science.

Goldstein JL.

Nat Med. 2014 Oct;20(10):1106-11. doi: 10.1038/nm.3676. No abstract available.


PA32540 (a coordinated-delivery tablet of enteric-coated aspirin 325 mg and immediate-release omeprazole 40 mg) versus enteric-coated aspirin 325 mg alone in subjects at risk for aspirin-associated gastric ulcers: results of two 6-month, phase 3 studies.

Whellan DJ, Goldstein JL, Cryer BL, Eisen GM, Lanas A, Miller AB, Scheiman JM, Fort JG, Zhang Y, O'Connor C.

Am Heart J. 2014 Oct;168(4):495-502.e4. doi: 10.1016/j.ahj.2014.05.017. Epub 2014 Jun 9.


Three pools of plasma membrane cholesterol and their relation to cholesterol homeostasis.

Das A, Brown MS, Anderson DD, Goldstein JL, Radhakrishnan A.

Elife. 2014 Jun 11;3. doi: 10.7554/eLife.02882.


Induced ablation of ghrelin cells in adult mice does not decrease food intake, body weight, or response to high-fat diet.

McFarlane MR, Brown MS, Goldstein JL, Zhao TJ.

Cell Metab. 2014 Jul 1;20(1):54-60. doi: 10.1016/j.cmet.2014.04.007. Epub 2014 May 15.


Predicting regression of Barrett's esophagus: results from a retrospective cohort of 1342 patients.

Brown CS, Lapin B, Wang C, Goldstein JL, Linn JG, Denham W, Haggerty SP, Talamonti MS, Howington JA, Carbray J, Ujiki MB.

Surg Endosc. 2014 Oct;28(10):2803-7. doi: 10.1007/s00464-014-3548-0. Epub 2014 May 2.


Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

Bali DS, Goldstein JL, Fredrickson K, Rehder C, Boney A, Austin S, Weinstein DA, Lutz R, Boneh A, Kishnani PS.

Mol Genet Metab. 2014 Mar;111(3):309-313. doi: 10.1016/j.ymgme.2013.12.008. Epub 2013 Dec 19.


Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results.

Goldstein JL, Dickerson G, Kishnani PS, Rehder C, Bali DS.

Muscle Nerve. 2014 May;49(5):775-6. doi: 10.1002/mus.24149. No abstract available.


Gaps and opportunities in refractory status epilepticus research in children: a multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG).

Sánchez Fernández I, Abend NS, Agadi S, An S, Arya R, Carpenter JL, Chapman KE, Gaillard WD, Glauser TA, Goldstein DB, Goldstein JL, Goodkin HP, Hahn CD, Heinzen EL, Mikati MA, Peariso K, Pestian JP, Ream M, Riviello JJ Jr, Tasker RC, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG).

Seizure. 2014 Feb;23(2):87-97. doi: 10.1016/j.seizure.2013.10.004. Epub 2013 Oct 16. Review.

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