Lysosomal metabolism of glycoproteins, Glycobiology, vol.15, issue.6, pp.1-15, 2005. ,
DOI : 10.1093/glycob/cwi041
Lysosomal disorders, Paediatrics and Child Health, vol.21, issue.2, pp.75-83, 2002. ,
DOI : 10.1016/j.paed.2010.08.012
Profiling oligosaccharidurias by electrospray tandem mass spectrometry: Quantifying reducing oligosaccharides, Analytical Biochemistry, vol.345, issue.1, pp.30-46, 2005. ,
DOI : 10.1016/j.ab.2005.06.042
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases, Archives of Neurology, vol.60, issue.3, pp.322-328, 2003. ,
DOI : 10.1001/archneur.60.3.322
Newborn Screening of Lysosomal Storage Disorders, Clinical Chemistry, vol.56, issue.7, pp.1071-1079, 2010. ,
DOI : 10.1373/clinchem.2009.141622
Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation, Blood, vol.97, issue.1, pp.327-329, 2001. ,
DOI : 10.1182/blood.V97.1.327
Bone marrow transplantation in young aspartylglucosaminuria mice: improved clearance of lysosomal storage in brain by using wild type as compared to heterozygote donors, Bone Marrow Transplantation, vol.34, issue.11, pp.1001-1003, 2004. ,
DOI : 10.1038/sj.bmt.1704665
Massive accumulation of Man2GlcNAc2-Asn in nonneuronal tissues of glycosylasparaginase-deficient mice and its removal by enzyme replacement therapy, Glycobiology, vol.15, issue.1, pp.79-85, 2005. ,
DOI : 10.1093/glycob/cwh145
Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in ??-mannosidosis mice, Human Molecular Genetics, vol.17, issue.22, pp.3437-3445, 2008. ,
DOI : 10.1093/hmg/ddn237
Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice, Journal of Inherited Metabolic Disease, vol.144, issue.5, pp.611-617, 2010. ,
DOI : 10.1007/s10545-010-9158-7
Cerebellar alterations and gaitdefectsastherapeutic outcome measures for enzyme replacement therapy in alpha-mannosidosis ,
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in ??-galactosidase deficiency, Human Mutation, vol.15, issue.7, pp.843-852, 2011. ,
DOI : 10.1002/humu.21516
Lysosomal accumulation of Trk protein in brain of GM1-gangliosidosis mouse and its restoration by chemical chaperone, Journal of Neurochemistry, vol.45, issue.3, pp.399-406, 2011. ,
DOI : 10.1111/j.1471-4159.2011.07310.x
Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III, Current Opinion in Neurology, vol.12, issue.2, pp.167-176, 1999. ,
DOI : 10.1097/00019052-199904000-00007
Bone marrow transplantation for aspartylglucosaminuria: Follow-up study of transplanted and non-transplanted patients, The Journal of Pediatrics, vol.138, issue.2, pp.288-290, 2001. ,
DOI : 10.1067/mpd.2001.110119
Five-Year Follow-Up of Two Siblings with Aspartylglucosaminuria Undergoing Allogeneic Stem-Cell Transplantation from Unrelated Donors, Transplantation, vol.78, issue.3, pp.415-419, 2004. ,
DOI : 10.1097/00007890-200408150-00015
Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation, Bone Marrow Transplantation, vol.27, issue.7, pp.747-751, 2001. ,
DOI : 10.1038/sj.bmt.1702994
Long-term follow-up of metachronous marrow-kidney transplantation in severe type II sialidosis: what does success mean?, Nephrology Dialysis Transplantation, vol.20, issue.11, pp.2563-2565, 2005. ,
DOI : 10.1093/ndt/gfi063
Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients, Bone Marrow Transplantation, vol.80, issue.3, pp.352-359, 2012. ,
DOI : 10.1038/bmt.2011.99
Successful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis, Pediatric Transplantation, vol.32, issue.13, pp.779-782 ,
DOI : 10.1111/j.1399-3046.2012.01763.x
Bone marrow transplantation correcting ??-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis, Journal of Inherited Metabolic Disease, vol.18, issue.5, pp.797-798, 2005. ,
DOI : 10.1007/s10545-005-0089-7
Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up, Journal of Inherited Metabolic Disease, vol.5, issue.S3, pp.33-355, 2010. ,
DOI : 10.1007/s10545-010-9186-3
An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay???Sachs or Sandhoff variants), Molecular Genetics and Metabolism, vol.102, issue.1, pp.6-12, 2011. ,
DOI : 10.1016/j.ymgme.2010.09.004
Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM1 gangliosidosis, Chemical Communications, vol.10, issue.52, pp.6514-6516, 2012. ,
DOI : 10.1039/c2cc32065g
Oligosaccharides in urine of patients with glycoprotein storage diseases, Clinica Chimica Acta, vol.60, issue.2, pp.143-145, 1975. ,
DOI : 10.1016/0009-8981(75)90119-9
High-performance liquid chromatography of urinary oligosaccharides in the diagnosis of glycoprotein degradation disorders, Clinica Chimica Acta, vol.203, issue.2-3, pp.211-224, 1991. ,
DOI : 10.1016/0009-8981(91)90293-L
Diagnosis of lysosomal storage disorders: current techniques and future directions, Expert Review of Molecular Diagnostics, vol.4, issue.5, pp.677-691, 2004. ,
DOI : 10.1586/14737159.4.5.677
HPLC analysis of oligosaccharides in urine from oligosaccharidosis patients, Clin Chem, vol.40, pp.914-921, 1994. ,
A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing, Clinical Biochemistry, vol.38, issue.4, pp.296-309, 2005. ,
DOI : 10.1016/j.clinbiochem.2005.01.017
A mass spectrometric strategy for profiling glycoproteinoses, Pompe disease, and sialic acid storage diseases, PROTEOMICS ??? CLINICAL APPLICATIONS, vol.17, issue.4, pp.528-542, 2008. ,
DOI : 10.1002/prca.200780097
Mass spectrometry in the study of lysosomal storage disorders, Cell Mol Biol, vol.49, pp.769-777, 2003. ,
Towards a selected reaction monitoring mass spectrometry fingerprint approach for the screening of oligosaccharidoses, Analytica Chimica Acta, vol.686, issue.1-2, pp.102-106, 2011. ,
DOI : 10.1016/j.aca.2010.11.047
New fragmentation mechanisms in matrix-assisted laser desorption/ionization time-of-flight/time-of-flight tandem mass spectrometry of carbohydrates, Rapid Communications in Mass Spectrometry, vol.18, issue.4, pp.392-398, 2004. ,
DOI : 10.1002/rcm.1350
Analysis of neutral oligosaccharides by matrix-assisted laser desorption ionization mass spectrometry, Analytical Chemistry, vol.63, issue.14, pp.1463-1466, 1991. ,
DOI : 10.1021/ac00014a022
Analysis of Acidic Oligosaccharides and Glycopeptides by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry, Analytical Chemistry, vol.68, issue.18, pp.3215-3223, 1996. ,
DOI : 10.1021/ac960324z
Matrix optimization for matrix-assisted laser desorption/ionization mass spectrometry of oligosaccharides from human milk, Journal of Mass Spectrometry, vol.28, issue.2, pp.98-104, 1999. ,
DOI : 10.1002/(SICI)1096-9888(199902)34:2<98::AID-JMS767>3.0.CO;2-N
Analysis of carbohydrates and glycoconjugates by matrix-assisted laser desorption/ionization mass spectrometry: An update covering the period 1999???2000, Mass Spectrometry Reviews, vol.16, issue.196, pp.595-662, 2000. ,
DOI : 10.1002/mas.20080
A systematic nomenclature for carbohydrate fragmentations in FAB-MS/MS spectra of glycoconjugates, Glycoconjugate Journal, vol.4, issue.4, pp.397-409, 1988. ,
DOI : 10.1007/BF01049915
Postsource decay fragmentation of N-linked carbohydrates from ovalbumin and related glycoproteins, Journal of the American Society for Mass Spectrometry, vol.256, issue.6, pp.572-577, 2000. ,
DOI : 10.1016/S1044-0305(00)00121-5
Oligosaccharide Analysis in Urine by MALDI-TOF Mass Spectrometry for the Diagnosis of Lysosomal Storage Diseases, Clinical Chemistry, vol.59, issue.9, pp.591357-1368, 2013. ,
DOI : 10.1373/clinchem.2012.201053