Clinical Enzymology and Quantitative Proteomics Reprints

Herbst, Z.; Turgeon, C.T.; Biski, C.; Khaledi, H.; Shoemaker, N.B.; DeArmond, P.D.; Smith, S.; Orsini, J.; Matern, D.; Gelb, M.H. Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease. Int. J. Neonatal Screen. 2020, 6, 29; doi:10.3390/ijns6020029

Guenzel, A.J.;  Turgeon, C.T.;  Nickander, K.K.;  White, A.L.; Peck, D.S.;  Pino, G.B.;  Studinski, A.L.;  Prasad, V.K.;  Kurtzberg, J.;  Escolar, M.L.;  Lasio, M.L.D.; Pellegrino, J.E.; Sakonju, A.;  R.E.;  Shallow, N.M.;  Ream, M.A.; Orsini, J.J.;  Gelb, M.H.; Raymond, K.;  Gavrilov, D.K.;  Oglesbee, D.; Rinaldo, P.; Tortorelli, S.; Matern, D.  The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease. Genet. Med. 2020, https://doi.org/10.1038/s41436-020-0764-y.

Kumar, A.B.; Hong, X.; Yi, F.; Wood, T.; Gelb, M.H. Tandem mass spectrometry-based multiplex assays for a-mannosidosis and fucosidosis. Mol. Genet. Metab. 2019, 127, 207-211.

Chan, M-J; Liao, H-C; Gelb, M.H.;  Chuang, C-H;  Liu, M-Y;  Chen, H-J; Kao, S-H; Lin, H-Y; Huang, Y-H; Kumar, A.B.;  Chennamaneni, N.K.; Nagendar, P.; Lin, S-P; Chiang, C-C. Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI  J Pediatr. 2019, 205, 176-182. doi: 10.1016/j.jpeds.2018.09.063. Epub 2018 Nov 6.

Hong, X.; Gelb, M.H. One-step synthesis of carbon-13-labeled globotriaosylsphingosine (lyso-Gb3), an internal standard for biomarker analysis of Fabry disease.  Mol Genet Metab., 2018, 125, 292-294. doi: 10.1016/j.ymgme.2018.08.001. Epub 2018 Aug 10.

Khaledi, H.; Liu, Y.; Masi, S.; Gelb, M.H.  Detection of Infantile Batten Disease by Tandem Mass Spectrometry Assay of PPT1 Enzyme Activity in Dried Blood Spots. Anal Chem. 2018, 90,12168-12171. doi: 10.1021/acs.analchem.8b03188. Epub 2018 Sep 24.

Gelb, M.H. Absolute Amounts of Analytes: When Gravimetric Methods Are Insufficient. Clin Chem., 2018, 64,1430-1432. doi: 10.1373/clinchem.2018.290486. Epub 2018 Jul 27

Gelb, M. Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools. Int. J. Neonatal Screen. 2018, 4, 23.NIHMSID: NIHMS984633.

Yi, F.; Hong, X.; Kumar, A.B.; Zong, C.; Boons, G.J.; Scott, C.R.; Turecek, F.; Robinson, B.H.; Gelb, M.H.  Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry. Mol Genet Metab. 2018, 125, 59-63. doi: 10.1016/j.ymgme.2018.05.005. Epub 2018 May 23.

Hong, X.; Kumar, A.B.;Scott, R.C.; Gelb, M.H.  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. Mol Genet Metab. 2018, 124, 101-108. doi: 10.1016/j.ymgme.2018.03.012. Epub 2018 Mar 29.

Kwon, J.M.; Matern, D.; Kurtzberg, J.; Wrabetz, L.; Gelb, M.H.; Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ. Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.  Orphanet J Rare Dis. 2018 Feb 1;13(1):30.PMID: 29391017 [PubMed – in process]

Masi, S.; Chennamaneni, N.; Turecek, F.; Scott, C.R.; Gelb, M.H. Specific Substrate for the Assay of Lysosomal Acid Lipase. Clin Chem. 2018 March .DOI: 10.1373/clinchem.2017.282251. PMID: 29339442.

Peake, Roy W.A.; Marsden, Deborah L.; Bodamer, Olaf A.; Gelb, Michael H.; Millington, David S.; Wijburg, Frits. Newborn Screening for Lysosomal Storage Disorders: Quo Vadis? Clinical Chemistry Nov 2016, 62,1430-1438; DOI: 10.1373/clinchem.2016.258459.

Liao, H.C.; Spacil, Z.; Ghomashchi, F.; Escolar, M.L.; Kurtzberg, J.; Orsini, J.J.; Turecek, F.; Scott, C.R.; Gelb, M.H. Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease. Clin Chem. 2017 Jun 7. pii: clinchem.2016.264952. doi: 10.1373/clinchem.2016.264952. [Epub ahead of print].

Escolar, M.L.; Kiely, B.T.; Shawgo, E.; Hong, X.; Gelb, M.H.; Orsini, J.J.; Matern, D.; Poe, M.D.  Psychosine, a marker of Krabbe phenotype and treatment effect. Mol Genet Metab. 2017 May 22. pii: S1096-7192(17)30205-6. doi: 10.1016/j.ymgme.2017.05.015. [Epub ahead of print] PMID: 28579020. Article.

Yang, L; Kumar, A.B.; Chennamaneni, N.K.; Hong, X.; Scott, C.R.; Gelb, M.H.; Tureček. F. Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoes and Type 2 Neuronal Ceroid Lipofuscinosis. Clin. Chem. 2017, 63, 1118-1126. doi:10.1373/clinchem.2016.269167. Epub 2017 Apr 20. PMID: 28428354. Supplemental materials.

Liao. H.C.; Chan, M.J.; Yan, C.F.; Chiang, C.C.; Niu, D.M.; Huang, C.K.; Gelb, M.H. Mass Spectrometry but Not Fluorometry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.Clin Chem. 2017 pii: clinchem.2016.269027. doi:10.1373/clinchem.2016.269027. [Epub ahead of print] PMID: 28450385. [Epub ahead of print].

Lin, N.; Huang, J.; Violante, S.; Orsini, J.J.; Caggana, M.; Hughes, E.E.; Stevens, C.; DiAntonio, L.; Chieh, L.H.; Hong, X.; Ghomashchi, F.; Babu, K.A.; Zhou, H.; Kornreich, R.; Wasserstein, M.; Gelb, M.H.; Yu, C. Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease. Clin Chem. 2017 63:842-851.  doi:10.1373/clinchem.2016.259036. Epub 2017 Feb 14. v. PMID: 28196920; PMCID: PMC5413112.

Elliott, S.; Buroker, N.; Cournoyer, J.J.; Potier, A.M.; Trometer, J.D.; Elbin, C.; Schermer, M.J.; Kantola, J.; Boyce, A.; Tureček, F.; Gelb, M.H.; Scott, C.R. Pilot study of newborn screening for six lysosomal storage diseasesusing Tandem Mass Spectrometry.  Mol Genet Metab. 2016 118, 304-309. doi: 10.1016/j.ymgme.2016.05.015. Epub 2016. May 20. PMID: 27238910; PMCID: PMC5318163.

reprint  supplement dataset  http://www.sciencedirect.com/science/article/pii/S2352340916304206

Spacil, Z., Babu Kumar, A., Liao, HC., Auray-Blais, C., Stark, S., Suhr, TR., Scott, CR., Tureček, F., Gelb, MH.(2015) “Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples,” Clin Chem. 2015 Nov 19. pii: clinchem.2015.245159. PMID: 26585924 reprint supplement

Kumar AB, Spacil Z, Ghomashchi F, Masi S, Sumida T, Ito M, Tureček F, Scott CR, Gelb MH.(2015)”Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI” Clin Chim Acta. 2015 Aug 15. pii: S0009-8981(15)00381-2. doi: 10.1016/j.cca.2015.08.010. PMID:26282597 reprint supplement

Kumar, A.B., Masi, S., Ghomashchi, F., Chennamaneni, N.K., Ito, M., Scott, C.R., Tureček, F., Gelb, M.H., Spacil, Z. (2015) “Tandem Mass Spectrometry has a larger analytical range than Fluorescence Assays of Lysosomal Enzymes: Application to newborn screening and Diagnosis of Mucopolysaccharidoses Types II, IVA and VI.”

Clin Chem. 2015 Sep 14. pii: clinchem.2015.242560. DOI:10.1016/j.cca.2015.08.010 PMID:26369786 reprint  supplement

Ghomashchi, F., Barcenas, M., Tureček, F., Scott, C. R., Gelb, M. H., (2015) “Reliable assay of acid sphingomyelinase deficiency with the mutation Q292K by tandem mass spectrometry,” Clin Chem, 61:(5):771-778, DOI:10.2373/clinchem.2014.236448.   PMID: 25770139.   reprint

Gelb, M. H., Scott, C. R., Tureček, F. (2015) “Newborn screening for lysosomal storage diseases,” Clin Chem, 61:335-346.  PMID: 25477536, PMCID: PMC4345406.  reprint   supplement

Barcenas, M., Xue, C., Marushchak-Vlaskin, T., Scott, C. R., Gelb, M. H., Tureček, F. (2014) “Tandem mass spectrometry assays of palmitoyl protein thioesterase 1 and tripeptidyl peptidase activity in dried blood spots for the detection of Neuronal Ceroid Lipofuscinoses in newborns,” Anal. Chem., 86(15):7962-7968, DOI: 10.1021/ac501994b.  PMID: 25019629. reprint  supplement

Chennamaneni, N. K., Kumar, A. B., Barcenas, M., Specil, Z., Scott, C. R., Tureček, F., Gelb, M. H., (2014) “Improved reagents for newborn screening of Mucopolysaccharidosis types I, II, and VI by tandem mass spectrometry,” Anal. Chem., 86:4508-4514, DOI: 10.1021/ac5004135.  PMID: 24694010, PMCID: PMC4014144.  reprint  supplement

Fitterer, B., Hall, P., Antonishyn, N., Desikan, R., Gelb, M., Lehotay, D. (2014) “Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis,” Mol. Genet. Metab., 111:382-289.  doi: 10.1016/j.ymgme.2014.01.002.  PMID: 24461908, PMCID: PMC4346577.  reprint

Barcenas, M., Suhr, T. R., Scott, C. R., Tureček, F., Gelb, M. H. (2014) “Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography/electrospray tandem mass spectrometry,” Clinica Chimica Acta, 433:39-43, PMID: 24370383, PMCID:  PMC4039571.   reprint    supplemental material

Scott, C. R., Elliot, S., Buroker, N., Thomas, L. I., Keutzer, J., Glass, M., Gelb, M. H., Tureček, F. (2013) “Identification of infants at risk for developing Fabry, Pompe, or Mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.” Journal of Pediatrics, 163:498-503. doi: 10.1016/j.jpeds.2013.01.013  PMID: 23465405,  PMCID: PMC3725184.  . reprint

Orsini, J. J., Martin, M. M., Showers, A. L., Bodamer, O. A., Zhang, X. K., Gelb, M. H., et al. (2012). “Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disorders.” Clinica Chimica Acta, 413(15-16), 1270-1273.  PMID:  22548856, PMCID: PMC3443687.   reprint

Spacil, Z., Tatipaka, H., Barcenas, M., Scott, C. R., Tureček, F., Gelb, M. H. (2012) “High-throughput assay of 9 lysosomal enzymes for newborn screening.” Clinical Chemistry.,  59 (3), 1530-8561.  PMID: 23315484.  reprint  supplemental

Wolf, B. J., Ghomashchi, F., Kim, T., Abam, C. A., Sadilek, M., Jack, R., Thompson, J. N., Scott, C. R., Gleb, M. H., Tureček, F. (2012) “New substrates and enzyme assays for the detection of mucopolysaccharidosis III (Sanfilippo Syndrome) types A, B, C, and D by tandem mass spectrometry,” Bioconjug Chem., 23:557-564.  PMID: 22372747, PMCID: PMC: 3310265. reprint supp

Spacil, Z., Hui, R., Gelb, M. H., & Tureček, F. (2011). “Protonation sites and dissociation mechanisms of t-butylcarbamates in tandem mass spectrometric assays for newborn screening.” Journal of Mass Spectrometry, 46(10), 1089-1098. PMID: 22012676, PMCID: PMC3212097.  reprint

Spacil, Z., Elliott, S., Reeber, S. L., Gelb, M. H., Scott, C. R. and Tureček, F. (2011) “Comparative triplex tandem mass spectrometry assays of lysosomal enzyme activities in dried blood spots using fast liquid chromatography:  Application to newborn screening of  Pompe, Fabry, and Hurler diseases” Anal. Chem., 83:4822-4828.  PMID: 21548611, PMCID: PMC 3115456 reprint supp.

Wolfe, B. J., Blanchard, S., Sadilek, M., Scott, C. R., Tureček, F., Gelb, M. H. (2011) “Tandem mass spectrometry for the direct assay of Lysosomal enzymes in dried blood spots:  Application to screening newborns for Mucopolysaccharidosis II (Hunter Syndrome)” Anal. Chem., 83:1152-1156.  PMID:  21192662, PMCID: PMC3442111.   reprint supp.

Khaliq, T., Sadilek, M., Scott, C. R., Tureček, F., Gelb, M. H. (2011) “Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots:  Application to screening newborns for Mucopolysaccharidosis IVA,” Clin. Chem., 57(1):128-131.  PMID: 21030685, PMCID: PMC3442110.   reprint  supp.

Duffey, T. A., Sadilek, M., Scott, C. R., Tureček, F., Gelb, M. H. (2010) “Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots:  Application to screening newborns for Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)”, Anal. Chem., 82:9587-9591.  PMID:  20961069, PMCID: PMC2980560.   reprint  supp.

Choiniere, J. R., Scott, C. R., Gelb, M. H., Tureček, F. (2010) “Direct assay of delta-aminolevulinic acid dehydratase in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry,” Anal. Chem., 82:6730-6736.  PMID:  20583792, PMCID: PMC2913591.   reprint  supp.

Duffey, T. A., Bellamy, G., Elliott, S., Fox, A. C., Glass, M., Tureček, F., Gelb, M. H., Scott, C. R. (2010) “A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and Mucopolysaccharidosis-I (Hurler),” Clin Chem., 56(12):1854-1861.  PMID: 20876176.   reprint supp.

Zhang, X. K., Elbin, C. S., Tureček, F., Scott, R., Chuang, W. L., Keutzer, J. M., Gelb, M. (2010) “Multiplex lysosomal enzyme activity assay on dried blood spots using tandem mass spectrometry,” Methods Mol. Biol., 603:339-350.  PMID:  20077085, PMCID: PMC3442156.  reprint

Duffey, T. A., Khaliq, T., Scott, C. R., Tureček, F., Gelb, M. H. (2010) “Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes,” Bioorg. Med. Chem. Lett., 20(20):5994-5996.   PMID:  20833037,  MCID: PMC2944228.   reprint  supp.

Blanchard, S., Tureček, F., Gelb, M. H. (2009) “Short synthetic sequence for 2-sulfation of alpha-L-iduronate glycosides” Carbohydrate Research,  344:1032-1033.  PMID:  19356745, PMCID: PMC2680446.    reprint supp.

Blanchard, Sophie, Sadilek, Martin, Scott, C. Ronald, Tureček, Frantisek, and Gelb, Michael H. (2008) “Tandem mass spectrometry for the direct assay of Lysosomal enzymes in dried blood spots:  Application to screening newborns for Mucopolysaccharidosis I,” Clin. Chem., 54:2067-2070.   PMID: 19042989, PMCID: PMC2891177.     reprint   supplemental data

Wang, Y., Scott, C. R., Gelb, M. H., Tureček, F. (2008) “Direct Assay of Enzymes in Heme Biosynthesis for the Detection of Prophyrias by Tandem Mass Spectrometry,” Anal. Chem., 80:2606-2611.  PMID: 18294005, PMCID: PMC2565751.        reprint.pdf  supp.

Wang, Y., Gatti, P., Sadilek, M., Scott, C. R., Tureček, F., Gelb, M. H. (2008) “Direct Assay of Enzymes in Heme Biosynthesis for the Detection of Porphyrias by Tandem Mass Spectrometry. Uroporphyrinogen Decarboxylase and Coproporphyrinogen III Oxidase,” Anal. Chem., 80:2599-2605.  PMID: 18294003,  PMCID: PMC2515868.    reprint.pdf  supp.

Tureček, F., Scott, C. R., Gelb, M. H. (2007) “Tandem mass spectrometry in the detection of inborn errors of metabolism for newborn screening,” Methods Mol. Biol., 359:143-157.  PMID: 17484116 reprint.pdf

Lu, Y., Bottari, P., Aebersold, R., Tureček, F., Gelb, M. H. (2007) “Absolute quantification of specific proteins in complex mixtures using visible isotope-coded affinity tags,” Methods Mol. Biol., 359:159-176.  PMID: 17484117.    reprint.pdf

Wang, D., Wood,T., Sadilek, M., Scott, C. R., Tureček, F. and M. H. Gelb  (2007) “Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: Application to newborn screening for Mucopolysaccharidosis II (Hunter Disease),” Clin. Chem. 53:137-140.  PMID: 17082248, PMCID: PMC2497000.    reprint.pdf  supp.

Gelb, M. H., Tureček, F., Scott, R. C., and Nestor, A. Chamoles. (2006) ” Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders,” J Inherit Metab Dis 29:397–404. reprint.pdf

Seebacher, J., Mallick, P., Zhang, N., Eddes J. S., Aebersold, R. and Gelb, M. H. (2006)” Protein cross-linking analysis using mass spectrometry, isotope-coded cross-linkers, and integrated computational data processing.” Journal of Proteome Research, 5(9):2270-82.  reprint.pdf

Scott, C. R. (2005) “Newborn screening for lysosomal storage disorders,”

Clinical Perspectives 12:11-15. reprint.pdf

Wang, D., Eadala, B., Sadilek, M., Chamoles N. A., Tureček, F., Scott, C. R. and Gelb, M. H. (2005) “Tandem mass spectrometric analysis of dried blood spots for screening of Mucopolysaccharidosis I in newborns,” Clin. Chem. 51:898-900. reprint.pdf, supplement.pdf, editorial.pdf

Li, Y., Scott, C. R., Chamoles, N. A., Ghavami, A., Pinto, B. M., Tureček, F., Gelb, M. H. (2004) “Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening,” Clin. Chem., 50:1785-96. reprint.pdf  supp.

Lu, Y., Bottari, P., Tureček, F., Aebersold, R. and Gelb, M. H. (2004) “Absolute quantification of specific proteins in complex mixtures using visible isotope-coded affinity tags,” Anal. Chem., 76:4104-4111. reprint.pdf  supp.

Li, Y., Brockman, K., Tureček, F., Scott, C. R., Gelb, M. H. (2004) “Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: Application to newborn screening for Krabbe Disease,” Clin. Chem., 50: 638-640. reprint.pdf   data supplement.pdf

Bottari, P., Aebersold, R., Tureček, F., and Gelb, M. H. (2004) “Design and synthesis of visible isotope-coded affinity tags for the absolute quantification of specific proteins in complex mixtures,” Bioconj. Chem., 15:380-388.  reprint

Li, Y., Ogata, Y., Freeze, H. H., Scott, C. R., Tureček, F., and Gelb, M. H. (2003) “Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib,” Anal. Chem., 75:42-48. reprint.pdf  supp.

Ogata, Y., Scampavia, L., Ruzicka, J., Scott, C. R., Gelb, M. H., and Tureček, F. (2002) “Automated affinity capture-release of biotin-containing conjugates using a lab-on-valve apparatus coupled to UV/Visible and electrospray ionization mass spectrometry,” Anal. Chem., 74:4702-4708. reprint.pdf

Gerber, S. A., Tureček, F., and Gelb, M. H. (2001)  “Design and synthesis of substrate and internal standard conjugates for profiling enzyme activity in the Sanfilippo Syndrome by affinity chromatography/electrospray ionization mass spectrometry.” Bioconj. Chem., 12(4): 603-315. reprint.pdf

Zhou, X., Tureček, F., Scott, C. R., and Gelb, M. H. “Quantification of cellular acid sphingomyelinase and galactocerebroside B-galactosidase activities by electrospray ionization mass spectrometry”. Clin. Chem., 2001, 47(5):874-881.reprint.pdf

Gerber, S. A., Scott, C. R., Tureček, F., Gelb, M. H. “Direct profiling of multiple enzyme activities in human cell lysates by affinity chromatography/electrospray ionization mass spectrometry: Application to clinical enzymology”. Anal. Chem., 2001, 73:1651-1657. reprint.pdf

Gygi, S. P, Rist, B., Gerber, S. A., Tureček, F., Gelb, M. H, Aebersold R. “Quantitative analysis of complex protein mixtures using isotope-coded affinity tags”. Nat Biotechnol. 1999 Oct;17(10):994-9 reprint.pdf commentary.pdf

Gerber, S. A., Scott, C. R., Tureček, F., Gelb, M. H. (1999) “Analysis of rates of muliple enzymes in cell lysates by electrospray ionization mass spesctrometery,” J. Am. Chem. Soc. 121:1102-1103; 121:176.  reprint  supp.