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Items: 1 to 20 of 237

1.

Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots.

Gelb MH, Lukacs Z, Ranieri E, Schielen PCJI.

Int J Neonatal Screen. 2019 Mar;5(1). pii: 1. doi: 10.3390/ijns5010001. Epub 2018 Dec 21.

2.
3.

Triazolopyrimidines and Imidazopyridines: Structure-Activity Relationships and in Vivo Efficacy for Trypanosomiasis.

Nagendar P, Gillespie JR, Herbst ZM, Ranade RM, Molasky NMR, Faghih O, Turner RM, Gelb MH, Buckner FS.

ACS Med Chem Lett. 2018 Dec 4;10(1):105-110. doi: 10.1021/acsmedchemlett.8b00498. eCollection 2019 Jan 10.

PMID:
30655955
4.

Function of secreted phospholipase A2 group-X in asthma and allergic disease.

Nolin JD, Murphy RC, Gelb MH, Altemeier WA, Henderson WR Jr, Hallstrand TS.

Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Jun;1864(6):827-837. doi: 10.1016/j.bbalip.2018.11.009. Epub 2018 Dec 5. Review.

PMID:
30529275
5.

Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI.

Chan MJ, Liao HC, Gelb MH, Chuang CK, Liu MY, Chen HJ, Kao SM, Lin HY, Huang YH, Kumar AB, Chennamaneni NK, Pendem N, Lin SP, Chiang CC.

J Pediatr. 2019 Feb;205:176-182. doi: 10.1016/j.jpeds.2018.09.063. Epub 2018 Nov 6.

PMID:
30409495
6.

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 Oct 16;90(20):12168-12171. doi: 10.1021/acs.analchem.8b03188. Epub 2018 Sep 24.

PMID:
30204428
7.

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 Nov;125(3):292-294. doi: 10.1016/j.ymgme.2018.08.001. Epub 2018 Aug 10.

PMID:
30126819
8.

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.

PMID:
30054339
9.

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.

PMID:
30006231
10.

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.

PMID:
29680633
11.

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.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

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.

18.

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.

19.

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.

20.

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.

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