{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:59:37Z","timestamp":1787237977077,"version":"build-2736575974"},"reference-count":205,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,3,19]],"date-time":"2018-03-19T00:00:00Z","timestamp":1521417600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2018,3,19]],"date-time":"2018-03-19T00:00:00Z","timestamp":1521417600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Tandem mass spectrometry (MS\/MS) is a highly sensitive and specific technique. Thanks to the development of triple quadrupole analyzers, it is becoming more widely used in laboratories working in the field of inborn errors of metabolism. We review here the state of the art of this technique applied to the diagnosis of lysosomal storage disorders (LSDs) and how MS\/MS has changed the diagnostic rationale in recent years. This fine technology brings more sensitive, specific, and reliable methods than the previous biochemical ones for the analysis of urinary glycosaminoglycans, oligosaccharides, and sialic acid. In sphingolipidoses, the quantification of urinary sphingolipids (globotriaosylceramide, sulfatides) is possible. The measurement of new plasmatic biomarkers such as oxysterols, bile acids, and lysosphingolipids allows the screening of many sphingolipidoses and related disorders (Niemann\u2013Pick type C), replacing tedious biochemical techniques. Applied to amniotic fluid, a more reliable prenatal diagnosis or screening of LSDs is now available for fetuses presenting with antenatal manifestations. Applied to enzyme measurements, it allows high throughput assays for the screening of large populations, even newborn screening. The advent of this new method can modify the diagnostic rationale behind LSDs.<\/jats:p>","DOI":"10.1007\/s10545-017-0126-3","type":"journal-article","created":{"date-parts":[[2018,3,19]],"date-time":"2018-03-19T11:47:26Z","timestamp":1521460046000},"page":"457-477","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2341-6514","authenticated-orcid":false,"given":"Monique","family":"Piraud","sequence":"first","affiliation":[{"name":"Unit\u00e9 Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Service de Biochimie et Biologie Mol\u00e9culaire Grand Est, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon 59 boulevard Pinel Bron cedex 69677 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magali","family":"Pettazzoni","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Service de Biochimie et Biologie Mol\u00e9culaire Grand Est, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon 59 boulevard Pinel Bron cedex 69677 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Lavoie","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, D\u00e9partement de P\u00e9diatrie, Facult\u00e9 de m\u00e9decine et des sciences de la sant\u00e9 Universit\u00e9 de Sherbrooke Sherbrooke QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9verine","family":"Ruet","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Service de Biochimie et Biologie Mol\u00e9culaire Grand Est, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon 59 boulevard Pinel Bron cedex 69677 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Pagan","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Service de Biochimie et Biologie Mol\u00e9culaire Grand Est, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon 59 boulevard Pinel Bron cedex 69677 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Cheillan","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Service de Biochimie et Biologie Mol\u00e9culaire Grand Est, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon 59 boulevard Pinel Bron cedex 69677 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Latour","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Neurog\u00e9n\u00e9tique Mol\u00e9culaire, Service de Biochimie et Biologie Mol\u00e9culaire Grand Est, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Vianey\u2010Saban","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Service de Biochimie et Biologie Mol\u00e9culaire Grand Est, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon 59 boulevard Pinel Bron cedex 69677 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Auray\u2010Blais","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, D\u00e9partement de P\u00e9diatrie, Facult\u00e9 de m\u00e9decine et des sciences de la sant\u00e9 Universit\u00e9 de Sherbrooke Sherbrooke QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseline","family":"Froissart","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Service de Biochimie et Biologie Mol\u00e9culaire Grand Est, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon 59 boulevard Pinel Bron cedex 69677 France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,3,19]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2015.11.018"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0712309105"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1006\/abio.2000.4838"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2016090964"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000401559"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1055-6"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.09.003"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2012.01.012"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac203433e"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2014.08.002"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.aca.2016.06.054"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2017.01.018"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/cphg.34"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2013.12.016"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac501994b"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.05.022"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2014.07.010"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M061978"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-19"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.40.25680"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac404000d"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2012.09.026"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.6061\/clinics\/2013(11)14"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-4416-9"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.967"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1515\/revac-2016-0019"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(01)00478-8"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/47.11.2068"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/47.12.2098"},{"key":"e_1_2_9_31_1","first-page":"780","volume":"47","author":"Chamoles NA","year":"2001","journal-title":"Diagnosis of alpha\u2010L\u2010iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(01)00798-7"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(02)00002-5"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep23274"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac5004135"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2014_366"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0135-3"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2013.01.017"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.11.012"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2015.04.001"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2006.03.029"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9937-x"},{"key":"e_1_2_9_43_1","first-page":"147","volume":"25","author":"Cui Y","year":"2008","journal-title":"Synthetic sulfogalactosylceramide (sulfatide) and its use for the mass spectrometric quantitative urinary determination in metachromatic leukodystrophies"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/35.7.1472"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/38.6.803"},{"key":"e_1_2_9_46_1","first-page":"246","article-title":"Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long\u2010term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans","volume":"36","author":"Ru MH","year":"2013","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-05-352971"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)43013-5"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799801"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)35155-4"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(67)90091-7"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2010.152009"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bmcl.2010.08.080"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac102090v"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12613"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2011.03.012"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.05.015"},{"key":"e_1_2_9_58_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt468"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.12.006"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479-7364-5-3-156"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.029744"},{"key":"e_1_2_9_62_1","doi-asserted-by":"publisher","DOI":"10.1203\/01.PDR.0000141987.69757.DD"},{"key":"e_1_2_9_63_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ab.2014.04.018"},{"key":"e_1_2_9_64_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2014.236448"},{"key":"e_1_2_9_65_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0274-1"},{"key":"e_1_2_9_66_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.10.007"},{"key":"e_1_2_9_67_1","doi-asserted-by":"publisher","DOI":"10.1258\/000456307780945688"},{"key":"e_1_2_9_68_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2007.11.004"},{"key":"e_1_2_9_69_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9992-3"},{"key":"e_1_2_9_70_1","doi-asserted-by":"publisher","DOI":"10.1002\/rcm.6823"},{"key":"e_1_2_9_71_1","doi-asserted-by":"publisher","DOI":"10.3343\/alm.2015.35.1.165"},{"key":"e_1_2_9_72_1","doi-asserted-by":"publisher","DOI":"10.1007\/128_2013_464"},{"key":"e_1_2_9_73_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ab.2014.03.014"},{"key":"e_1_2_9_74_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(75)90119-9"},{"key":"e_1_2_9_75_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.D015735"},{"key":"e_1_2_9_76_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aaf2326"},{"key":"e_1_2_9_77_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2016.02.030"},{"key":"e_1_2_9_78_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2015.03.007"},{"key":"e_1_2_9_79_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2006.03.007"},{"key":"e_1_2_9_80_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)66632-3"},{"key":"e_1_2_9_81_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.aca.2015.02.017"},{"key":"e_1_2_9_82_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.aca.2015.02.016"},{"key":"e_1_2_9_83_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.12.010"},{"key":"e_1_2_9_84_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5028"},{"key":"e_1_2_9_85_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9981-6"},{"key":"e_1_2_9_86_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32712"},{"key":"e_1_2_9_87_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2013.06.027"},{"key":"e_1_2_9_88_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ab.2017.02.019"},{"key":"e_1_2_9_89_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2015.242560"},{"key":"e_1_2_9_90_1","first-page":"2346","volume":"39","author":"Kurczynski TW","year":"1993","journal-title":"Urinary oligosaccharides in pregnant or lactating women: pitfall in screening"},{"key":"e_1_2_9_91_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac900504s"},{"key":"e_1_2_9_92_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0138622"},{"key":"e_1_2_9_93_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac303033v"},{"key":"e_1_2_9_94_1","first-page":"277","article-title":"Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease","volume":"10","author":"Lefebvre G","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_9_95_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2003.028381"},{"key":"e_1_2_9_96_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2004.035907"},{"key":"e_1_2_9_97_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2016.269027"},{"key":"e_1_2_9_98_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2016.264952"},{"key":"e_1_2_9_99_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2016.259036"},{"key":"e_1_2_9_100_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2016.269167"},{"key":"e_1_2_9_101_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-9120(97)00033-7"},{"key":"e_1_2_9_102_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22910"},{"key":"e_1_2_9_103_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340313"},{"key":"e_1_2_9_104_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9360-2"},{"key":"e_1_2_9_105_1","doi-asserted-by":"publisher","DOI":"10.1002\/1873-3468.12196"},{"key":"e_1_2_9_106_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchromb.2012.09.012"},{"key":"e_1_2_9_107_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(83)90156-0"},{"key":"e_1_2_9_108_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2017.06.008"},{"key":"e_1_2_9_109_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2017.04.009"},{"key":"e_1_2_9_110_1","first-page":"595","article-title":"Cooper D, Morris M, Young E, Winchester B. Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease","volume":"163","author":"Mills K","year":"2004","journal-title":"Eur J Pediatr"},{"key":"e_1_2_9_111_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-5263-4"},{"key":"e_1_2_9_112_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M057232"},{"key":"e_1_2_9_113_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2015.01.006"},{"key":"e_1_2_9_114_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2016.05.017"},{"key":"e_1_2_9_115_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2017.01.014"},{"key":"e_1_2_9_116_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(68)90011-9"},{"key":"e_1_2_9_117_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12753"},{"key":"e_1_2_9_118_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24491"},{"key":"e_1_2_9_119_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.113.000249"},{"key":"e_1_2_9_120_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.10.006"},{"key":"e_1_2_9_121_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.06.006"},{"issue":"17","key":"e_1_2_9_122_1","first-page":"30328","article-title":"Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease","volume":"1096","author":"Nowak A","year":"2017","journal-title":"Mol Genet Metab"},{"key":"e_1_2_9_123_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/36.7.1381a"},{"key":"e_1_2_9_124_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-4347(00)00601-0"},{"key":"e_1_2_9_125_1","doi-asserted-by":"publisher","DOI":"10.1006\/abio.2000.4940"},{"key":"e_1_2_9_126_1","doi-asserted-by":"publisher","DOI":"10.1002\/bmc.74"},{"key":"e_1_2_9_127_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ab.2007.05.016"},{"key":"e_1_2_9_128_1","doi-asserted-by":"publisher","DOI":"10.1002\/mas.21463"},{"key":"e_1_2_9_129_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M060343"},{"key":"e_1_2_9_130_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00514.x"},{"key":"e_1_2_9_131_1","doi-asserted-by":"crossref","unstructured":"PattersonMC ClaytonP GissenPet al (2017)Recommendations for the detection and diagnosis of Niemann\u2010pick disease type C.Neurol Clin Pract.10.1212\/CPJ.0000000000000399","DOI":"10.1212\/CPJ.0000000000000399"},{"key":"e_1_2_9_132_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1593843"},{"issue":"1","key":"e_1_2_9_133_1","first-page":"S56","article-title":"LC\u2010MS\/MS lysosphingolipids measurement in plasma for the screening and follow\u2010up of lysosomal storage diseases","volume":"38","author":"Pettazzoni M","year":"2015","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_9_134_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0181700"},{"key":"e_1_2_9_135_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/36.5.809"},{"key":"e_1_2_9_136_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(93)90031-X"},{"key":"e_1_2_9_137_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(95)06250-5"},{"key":"e_1_2_9_138_1","doi-asserted-by":"publisher","DOI":"10.1002\/rcm.1957"},{"key":"e_1_2_9_139_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0248-8663(10)70026-6"},{"key":"e_1_2_9_140_1","unstructured":"PiraudM PettazzoniM PaganC CheillanD FroissartR Vianey\u2010SabanC(2015)Measurement of lysosphingolipids and their isoforms by LC\u2010MS\/MS in plasma urine and amniotic fluid: application to screening of sphingolipidoses. Poster P\u201054 20thESGLD Workshop and graduate course Sep 30 \u2013 Oct 4 2015 Pozzuoli Italy"},{"key":"e_1_2_9_141_1","doi-asserted-by":"publisher","DOI":"10.1002\/rcm.7860"},{"key":"e_1_2_9_142_1","doi-asserted-by":"publisher","DOI":"10.1515\/cclm-2016-0340"},{"key":"e_1_2_9_143_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3001417"},{"key":"e_1_2_9_144_1","doi-asserted-by":"publisher","DOI":"10.4155\/bio-2016-0116"},{"key":"e_1_2_9_145_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(03)00018-0"},{"key":"e_1_2_9_146_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ab.2005.06.042"},{"key":"e_1_2_9_147_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2013.208793"},{"key":"e_1_2_9_148_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1979.tb04237.x"},{"key":"e_1_2_9_149_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2015.12.018"},{"key":"e_1_2_9_150_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0363-3"},{"key":"e_1_2_9_151_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(81)90207-4"},{"key":"e_1_2_9_152_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0079732"},{"key":"e_1_2_9_153_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2016.01.003"},{"key":"e_1_2_9_154_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2010.05.003"},{"key":"e_1_2_9_155_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/48.1.131"},{"key":"e_1_2_9_156_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.aca.2016.12.002"},{"key":"e_1_2_9_157_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns3020006"},{"key":"e_1_2_9_158_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.01.031"},{"key":"e_1_2_9_159_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gt.3302883"},{"key":"e_1_2_9_160_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2013.05.001"},{"key":"e_1_2_9_161_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2014.09.001"},{"key":"e_1_2_9_162_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102872"},{"key":"e_1_2_9_163_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac200417u"},{"key":"e_1_2_9_164_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2012.189936"},{"key":"e_1_2_9_165_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2015.245159"},{"key":"e_1_2_9_166_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-016-0320-1"},{"key":"e_1_2_9_167_1","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1542\/peds.72.4.441","article-title":"Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type","volume":"72","author":"Stevenson RE","year":"1983","journal-title":"Pediatrics"},{"key":"e_1_2_9_168_1","doi-asserted-by":"publisher","DOI":"10.1006\/abio.1999.4245"},{"key":"e_1_2_9_169_1","doi-asserted-by":"crossref","unstructured":"SupriyaM DeT ChristopherR(2017)Effect of temperature on lysosomal enzyme activity during preparation and storage of dried blood spots.J Clin Lab Anal.10.1002\/jcla.22220","DOI":"10.1002\/jcla.22220"},{"key":"e_1_2_9_170_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)39839-4"},{"key":"e_1_2_9_171_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.09.006"},{"key":"e_1_2_9_172_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.06.007"},{"issue":"2","key":"e_1_2_9_173_1","first-page":"006","article-title":"Assay for glycosaminoglycans by tandem mass spectrometry and its applications","volume":"2014","author":"Tomatsu S","year":"2014","journal-title":"J Anal Bioanal Tech"},{"key":"e_1_2_9_174_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441499"},{"key":"e_1_2_9_175_1","doi-asserted-by":"publisher","DOI":"10.1002\/rcm.6861"},{"key":"e_1_2_9_176_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9822-z"},{"key":"e_1_2_9_177_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2003.027169"},{"key":"e_1_2_9_178_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9351-3"},{"key":"e_1_2_9_179_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchromb.2006.10.066"},{"key":"e_1_2_9_180_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchromb.2010.03.020"},{"key":"e_1_2_9_181_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101857"},{"key":"e_1_2_9_182_1","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1542\/peds.89.1.81","article-title":"Genetic causes of hydrops fetalis","volume":"89","author":"Maldergem L","year":"1992","journal-title":"Pediatrics"},{"key":"e_1_2_9_183_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9794-4"},{"key":"e_1_2_9_184_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.06.004"},{"key":"e_1_2_9_185_1","doi-asserted-by":"publisher","DOI":"10.1038\/70585"},{"key":"e_1_2_9_186_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9947-8"},{"key":"e_1_2_9_187_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3010101"},{"key":"e_1_2_9_188_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2004.047167"},{"key":"e_1_2_9_189_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2006.077263"},{"key":"e_1_2_9_190_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)69851-5"},{"key":"e_1_2_9_191_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0114669"},{"key":"e_1_2_9_192_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(68)90205-4"},{"key":"e_1_2_9_193_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3165"},{"key":"e_1_2_9_194_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/35.3.374"},{"key":"e_1_2_9_195_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/35.10.2074"},{"key":"e_1_2_9_196_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-86"},{"key":"e_1_2_9_197_1","doi-asserted-by":"crossref","unstructured":"WinchesterB(2012)Classification of lysosomal storage diseases.In:MehtaA Winchester B eds. Lysosomal storage disorders a practical guide. Wiley\u2010Blackwell pp37\u201346.","DOI":"10.1002\/9781118514672.ch5"},{"key":"e_1_2_9_198_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9673(01)91257-9"},{"key":"e_1_2_9_199_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-2697(03)00056-3"},{"key":"e_1_2_9_200_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181a87867"},{"key":"e_1_2_9_201_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31320"},{"key":"e_1_2_9_202_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2016.11.024"},{"key":"e_1_2_9_203_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2010.161141"},{"key":"e_1_2_9_204_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.09.009"},{"key":"e_1_2_9_205_1","doi-asserted-by":"crossref","unstructured":"ZhaoS ZhanX WangYet al (2017)Large\u2010scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.Clin Genet.10.1111\/cge.13071","DOI":"10.1111\/cge.13071"},{"key":"e_1_2_9_206_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2016.07.004"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10545-017-0126-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10545-017-0126-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10545-017-0126-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-017-0126-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T23:41:52Z","timestamp":1694734912000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-017-0126-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,19]]},"references-count":205,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["10.1007\/s10545-017-0126-3"],"URL":"https:\/\/doi.org\/10.1007\/s10545-017-0126-3","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,3,19]]}}}