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Detection of Infantile Batten Disease by Tandem Mass Spectrometry Assay of PPT1 Enzyme Activity in Dried Blood Spots.

Khaledi H, Liu Y, Masi S, Gelb MH.

Anal Chem. 2018 Sep 24. doi: 10.1021/acs.analchem.8b03188. [Epub ahead of print]


One-step synthesis of carbon-13-labeled globotriaosylsphingosine (lyso-Gb3), an internal standard for biomarker analysis of Fabry disease.

Hong X, Gelb MH.

Mol Genet Metab. 2018 Aug 10. pii: S1096-7192(18)30417-7. doi: 10.1016/j.ymgme.2018.08.001. [Epub ahead of print]


Absolute Amounts of Analytes: When Gravimetric Methods Are Insufficient.

Gelb MH.

Clin Chem. 2018 Oct;64(10):1430-1432. doi: 10.1373/clinchem.2018.290486. Epub 2018 Jul 27. No abstract available.


Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry.

Yi F, Hong X, Kumar AB, Zong C, Boons GJ, Scott CR, Turecek F, Robinson BH, Gelb MH.

Mol Genet Metab. 2018 Sep;125(1-2):59-63. doi: 10.1016/j.ymgme.2018.05.005. Epub 2018 May 23.


Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.

Hong X, Kumar AB, Ronald Scott C, Gelb MH.

Mol Genet Metab. 2018 Jun;124(2):101-108. doi: 10.1016/j.ymgme.2018.03.012. Epub 2018 Mar 29.


An Inexpensive, In-House-Made, Microdialysis Device for Measuring Drug-Protein Binding.

Herbst ZM, Shibata S, Fan E, Gelb MH.

ACS Med Chem Lett. 2017 Sep 28;9(3):279-282. doi: 10.1021/acsmedchemlett.7b00316. eCollection 2018 Mar 8.


Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.

Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ.

Orphanet J Rare Dis. 2018 Feb 1;13(1):30. doi: 10.1186/s13023-018-0766-x. Review.


Specific Substrate for the Assay of Lysosomal Acid Lipase.

Masi S, Chennamaneni N, Turecek F, Scott CR, Gelb MH.

Clin Chem. 2018 Apr;64(4):690-696. doi: 10.1373/clinchem.2017.282251. Epub 2018 Jan 16.


Secreted PLA2 group X orchestrates innate and adaptive immune responses to inhaled allergen.

Nolin JD, Lai Y, Ogden HL, Manicone AM, Murphy RC, An D, Frevert CW, Ghomashchi F, Naika GS, Gelb MH, Gauvreau GM, Piliponsky AM, Altemeier WA, Hallstrand TS.

JCI Insight. 2017 Nov 2;2(21). pii: 94929. doi: 10.1172/jci.insight.94929. [Epub ahead of print]


1-Benzyl-3-aryl-2-thiohydantoin Derivatives as New Anti-Trypanosoma brucei Agents: SAR and in Vivo Efficacy.

Buchynskyy A, Gillespie JR, Herbst ZM, Ranade RM, Buckner FS, Gelb MH.

ACS Med Chem Lett. 2017 Jul 10;8(8):886-891. doi: 10.1021/acsmedchemlett.7b00230. eCollection 2017 Aug 10.


New Class of Antitrypanosomal Agents Based on Imidazopyridines.

Silva DG, Gillespie JR, Ranade RM, Herbst ZM, Nguyen UTT, Buckner FS, Montanari CA, Gelb MH.

ACS Med Chem Lett. 2017 Jun 27;8(7):766-770. doi: 10.1021/acsmedchemlett.7b00202. eCollection 2017 Jul 13.


Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs.

Schielen PCJI, Kemper EA, Gelb MH.

Int J Neonatal Screen. 2017 Jun;3(2). pii: 6. doi: 10.3390/ijns3020006. Epub 2017 Mar 29.


Regulation of calcium release from the endoplasmic reticulum by the serine hydrolase ABHD2.

Yun B, Lee H, Powell R, Reisdorph N, Ewing H, Gelb MH, Hsu KL, Cravatt BF, Leslie CC.

Biochem Biophys Res Commun. 2017 Sep 2;490(4):1226-1231. doi: 10.1016/j.bbrc.2017.06.195. Epub 2017 Jul 3.


Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs.

Gelb MH, Ronald Scott C, Turecek F, Liao HC.

Mol Genet Metab Rep. 2017 Jun 12;12:80-81. doi: 10.1016/j.ymgmr.2017.05.004. eCollection 2017 Sep. No abstract available.


Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease.

Liao HC, Spacil Z, Ghomashchi F, Escolar ML, Kurtzberg J, Orsini JJ, Turecek F, Scott CR, Gelb MH.

Clin Chem. 2017 Aug;63(8):1363-1369. doi: 10.1373/clinchem.2016.264952. Epub 2017 Jun 7.


Psychosine, a marker of Krabbe phenotype and treatment effect.

Escolar ML, Kiely BT, Shawgo E, Hong X, Gelb MH, Orsini JJ, Matern D, Poe MD.

Mol Genet Metab. 2017 Jul;121(3):271-278. doi: 10.1016/j.ymgme.2017.05.015. Epub 2017 May 22.


Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.

Liao HC, Chan MJ, Yang CF, Chiang CC, Niu DM, Huang CK, Gelb MH.

Clin Chem. 2017 Jul;63(7):1271-1277. doi: 10.1373/clinchem.2016.269027. Epub 2017 Apr 27.


Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis.

Liu Y, Yi F, Kumar AB, Kumar Chennamaneni N, Hong X, Scott CR, Gelb MH, Turecek F.

Clin Chem. 2017 Jun;63(6):1118-1126. doi: 10.1373/clinchem.2016.269167. Epub 2017 Apr 20.


Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.

Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE, Stevens C, DiAntonio L, Chieh Liao H, Hong X, Ghomashchi F, Babu Kumar A, Zhou H, Kornreich R, Wasserstein M, Gelb MH, Yu C.

Clin Chem. 2017 Apr;63(4):842-851. doi: 10.1373/clinchem.2016.259036. Epub 2017 Feb 14.


Discovery of N-(2-aminoethyl)-N-benzyloxyphenyl benzamides: New potent Trypanosoma brucei inhibitors.

Buchynskyy A, Gillespie JR, Hulverson MA, McQueen J, Creason SA, Ranade RM, Duster NA, Gelb MH, Buckner FS.

Bioorg Med Chem. 2017 Mar 1;25(5):1571-1584. doi: 10.1016/j.bmc.2016.11.019. Epub 2016 Nov 12.

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