Tay W: Symmetrical changes in the region of the yellow spot in each eye of an infant. Trans Opthalmol Soc. 1881, 1: 55-57.
Google Scholar
Sachs B: On arrested cerebral development with special reference to cortical pathology. J Nerv Ment Dis. 1887, 14: 541-554.
Article
Google Scholar
Gaucher PCE: De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie. Academic thesis, Paris, France. 1882
Google Scholar
Capper A, Epstein H, Schless RA: Gaucher's disease. Report of a case with presentation of a table differentiating the lipoid disturbances. Am J Med Sci. 1934, 188: 84-10.1097/00000441-193407000-00012.
Article
Google Scholar
Hers HG: Alpha-glucosidase activity in generalized glycogen storage disease (Pompe's disease). Biochem J. 1963, 86: 11-
Article
PubMed Central
CAS
PubMed
Google Scholar
Ballabio A, Gieselmann V: Lysosomal disorders: From storage to cellular damage. Biochim Biophys Acta. 2009, 1793: 684-696. 10.1016/j.bbamcr.2008.12.001.
Article
CAS
PubMed
Google Scholar
Wraith JE: Lysosomal disorders. Semin Neonatol. 2002, 7: 75-83. 10.1053/siny.2001.0088.
Article
CAS
PubMed
Google Scholar
Futerman AH, van Meer G: The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol. 2004, 5: 554-565. 10.1038/nrm1423.
Article
CAS
PubMed
Google Scholar
Vellodi A: Lysosomal storage disorders. Br J Haematol. 2005, 128: 413-431. 10.1111/j.1365-2141.2004.05293.x.
Article
CAS
PubMed
Google Scholar
Vitner EB, Platt FM, Futerman AH: Common and uncommon pathogenic cascades in lysosomal storage diseases. J Biol Chem. 2010, 285: 20423-20427. 10.1074/jbc.R110.134452.
Article
PubMed Central
CAS
PubMed
Google Scholar
Boot RG, Renkema H, Verhoek M, Strijland A, et al: The human chitotriosidase gene. J Biol Chem. 1998, 273: 25680-25685. 10.1074/jbc.273.40.25680.
Article
CAS
PubMed
Google Scholar
De Duve C, Wattiaux R: Functions of lysosomes. Annu Rev Physiol. 1966, 28: 435-492. 10.1146/annurev.ph.28.030166.002251.
Article
CAS
PubMed
Google Scholar
Maxfield FR, McGraw TE: Endocytic recycling. Nat Rev Mol Cell Biol. 2004, 5: 121-132. 10.1038/nrm1315.
Article
CAS
PubMed
Google Scholar
Hickman S, Neufeld EF: A hypothesis for I-cell disease: Defective hydrolases that do not enter lysosomes. Biochem Biophys Res Commun. 1972, 49: 992-999. 10.1016/0006-291X(72)90310-5.
Article
CAS
PubMed
Google Scholar
Reitman ML, Kornfeld S: UDP-N-acetylglucosamine: glycoprotein N-acetylglucosamine-1-phosphotransferase. Proposed enzyme for the phosphorylation of the high mannose oligosaccharide units of lysosomal enzymes. J Biol Chem. 1981, 256: 4275-4281.
CAS
PubMed
Google Scholar
Waheed A, Hasilik A, von Figura K: Processing of the phosphorylated recognition marker in lysosomal enzymes. Characterization and partial purification of a microsomal alpha-N-acetylglucosaminyl phosphodiesterase. J Biol Chem. 1981, 256: 5717-5721.
CAS
PubMed
Google Scholar
Reczek D, Schwake M, Schröder J, Hughes H, et al: LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell. 2007, 131: 770-783. 10.1016/j.cell.2007.10.018.
Article
CAS
PubMed
Google Scholar
Beutler E, Grabowski G: Gaucher disease. The Metabolic and Molecular Bases of Inherited Disease. Edited by: Scriver CR, et al. 2001, McGraw-Hill, New York, NY, 3635-3668. 8
Google Scholar
Vallance H, Ford J: Carrier testing for autosomal-recessive disorders. Crit Rev Clin Lab Sci. 2003, 40: 473-497. 10.1080/10408360390247832.
Article
CAS
PubMed
Google Scholar
Arvio M, Autio S, Louhiala P: Early clinical symptoms and incidence of aspartylglucosaminuria in Finland. Acta Paediatr. 1993, 82: 587-589. 10.1111/j.1651-2227.1993.tb12761.x.
Article
CAS
PubMed
Google Scholar
Santavuori P: Neuronal ceroid-lipofuscinoses in childhood. Brain Dev. 1988, 10: 80-83. 10.1016/S0387-7604(88)80075-5.
Article
CAS
PubMed
Google Scholar
Michelakakis H, Dimitriou E, Tsagaraki S, Giouroukos S, et al: Lysosomal storage diseases in Greece. Genet Couns. 1995, 6: 43-47.
CAS
PubMed
Google Scholar
Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, et al: The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999, 105: 151-156.
Article
CAS
PubMed
Google Scholar
Meikle PJ, Hopwood JJ, Clague AE, Carey WF: Prevalence of lysosomal storage disorders. JAMA. 1999, 281: 249-254. 10.1001/jama.281.3.249.
Article
CAS
PubMed
Google Scholar
Pinto R, Caseiro C, Lemos M, Lopes L, et al: Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004, 12: 87-92. 10.1038/sj.ejhg.5201044.
Article
PubMed
Google Scholar
Poupětová H, Ledvinová J, Berná L, Dvoráková L, et al: The birth prevalence of lysosomal storage disorders in the Czech Republic: Comparison with data in different populations. J Inherit Metab Dis. 2010, 33: 387-396. 10.1007/s10545-010-9093-7.
Article
PubMed Central
PubMed
Google Scholar
Jalanko A, Braulke T: Neuronal ceroid lipofuscinoses. Biochim Biophys Acta. 2009, 1793: 697-709. 10.1016/j.bbamcr.2008.11.004.
Article
CAS
PubMed
Google Scholar
Cosma MP, Pepe S, Annunziata I, Newbold RF, et al: The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell. 2003, 113: 445-456. 10.1016/S0092-8674(03)00348-9.
Article
CAS
PubMed
Google Scholar
Dierks T, Schmidt B, Borissenko LV, Peng J, et al: Multiple sulfatase deficiency is caused by mutations in the gene encoding the human Cα-formylglycine generating enzyme. Cell. 2003, 113: 435-444. 10.1016/S0092-8674(03)00347-7.
Article
CAS
PubMed
Google Scholar
D'Azzo A, Andria G, Strisciuglio P, Galjaard H: Galactosialidosis. The Metabolic and Molecular Bases of Inherited Diseases. Edited by: Scriver CR, et al. 2001, McGraw-Hill, New York, NY, 3811-3826. 8
Google Scholar
Conzelmann E, Sandhoff K: Partial enzyme deficiencies: Residual activities and the development of neurological disorders. Dev Neurosci. 1983, 6: 58-71. 10.1159/000112332.
Article
PubMed
Google Scholar
O'Brien JS, Kretz KA, Dewji N, Wenger DA, et al: Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus. Science. 1988, 41: 1098-1101.
Article
Google Scholar
Spiegel R, Bach G, Sury V, Mengistu G, et al: A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: First report of saposin A deficiency in humans. Mol Genet Metab. 2005, 84: 160-166. 10.1016/j.ymgme.2004.10.004.
Article
CAS
PubMed
Google Scholar
Wenger DA, De Gala G, Williams C, Taylor HA, et al: Clinical, pathological, and biochemical studies on an infantile case of sulfatide/GM1 activator protein deficiency. Am J Med Genet. 1989, 33: 255-265. 10.1002/ajmg.1320330223.
Article
CAS
PubMed
Google Scholar
Christomanou H, Chabas A, Pampols T, Guardiola A: Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder. Wien Klin Wochenschr. 1989, 67: 999-1003.
Article
CAS
Google Scholar
Bradova V, Smid F, Ulrich-Bott B, Roggendorf W, et al: Prosaposin deficiency: Further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease. Hum Genet. 1993, 92: 143-152. 10.1007/BF00219682.
Article
CAS
PubMed
Google Scholar
Kornfeld S, Sly WS: I-cell disease and pseudo-Hurler polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization. The Metabolic and Molecular Bases of Inherited Diseases. Edited by: Scriver CR, et al. 2001, McGraw-Hill, New York, NY, 3469-3505. 8
Google Scholar
Gieselmann V, Polten A, Kreysing J, von Figura K: Arylsulfatase A pseudodeficiency: Loss of a polyadenylation signal and N-glycosylation site. Proc Natl Acad Sci USA. 1989, 86: 9436-9440. 10.1073/pnas.86.23.9436.
Article
PubMed Central
CAS
PubMed
Google Scholar
Cao Z, Petroulakis E, Salo T, Triggs-Raine B: Benign HEXA mutations, C739T(R247W) and C745T(R249W), cause betahexosaminidase A pseudodeficiency by reducing the alpha-subunit protein levels. J Biol Chem. 1997, 272: 14975-14982. 10.1074/jbc.272.23.14975.
Article
CAS
PubMed
Google Scholar
Aronovich EL, Pan D, Whitley CB: Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency. Am J Hum Genet. 1996, 58: 75-85.
PubMed Central
CAS
PubMed
Google Scholar
Nishimoto J, Inui K, Okada S, Ishigami W, et al: A family with pseudodeficiency of acid alpha-glucosidase. Clin Genet. 1988, 33: 254-261.
Article
CAS
PubMed
Google Scholar
Froissart R, Guffon N, Vanier MT, Desnick RJ, et al: Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab. 2003, 80: 307-314. 10.1016/S1096-7192(03)00136-7.
Article
CAS
PubMed
Google Scholar
Hoffmann B, Georg Koch H, Schweitzer-Krantz S, Wendel U, et al: Deficient alpha-galactosidase A activity in plasma but no Fabry disease -- A pitfall in diagnosis. Clin Chem Lab Med. 2005, 43: 1276-1277.
Article
CAS
PubMed
Google Scholar
Gort L, Santamaria R, Grinberg D, Vilageliu L, et al: Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis. Clin Genet. 2007, 72: 109-111. 10.1111/j.1399-0004.2007.00843.x.
Article
CAS
PubMed
Google Scholar
Wauters JG, Stuer KL, Elsen AV, Willems PJ: α-L-fucosidase in human fibroblasts. I. The enzyme activity polymorphism. Biochem Genet. 1992, 30: 131-141. 10.1007/BF02399704.
Article
CAS
PubMed
Google Scholar
Chabas A, Giros ML, Guardiola A: Low β-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII. J Inherit Metab Dis. 1991, 14: 908-914. 10.1007/BF01800472.
Article
CAS
PubMed
Google Scholar
Vervoort R, Islam MR, Sly W, Chabas A, et al: A pseudo-deficiency allele (D152N) of the human beta-glucuronidase gene. Am J Hum Genet. 1995, 57: 798-804.
PubMed Central
CAS
PubMed
Google Scholar
Gieselmann V: An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy. Hum Genet. 1991, 86: 251-255.
Article
CAS
PubMed
Google Scholar
Chabás A, Castellvi S, Bayés M, Balcells S, et al: Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population. Clin Genet. 1993, 44: 320-323.
Article
PubMed
Google Scholar
Regis S, Filocamo M, Stroppiano M, Corsolini F, et al: Molecular analysis of the arylsulfatase A gene in late infantile metachromatic leukodystrophy patients and healthy subjects from Italy. J Med Genet. 1996, 33: 251-252. 10.1136/jmg.33.3.251.
Article
PubMed Central
CAS
PubMed
Google Scholar
Shen N, Li ZG, Waye JS, Francis G, et al: Complications in the genotypic molecular diagnosis of pseudoarylsulfatase A deficiency. Am J Med Genet. 1993, 45: 631-637. 10.1002/ajmg.1320450523.
Article
CAS
PubMed
Google Scholar
Sandhoff K, Kolter T, Harzer K: Sphingolipid activator proteins. The Metabolic and Molecular Bases of Inherited Diseases. Edited by: Scriver CR, et al. 2001, McGraw-Hill, New York, NY, 3371-3388. 8
Google Scholar
Grossi S, Regis S, Rosano C, Corsolini F, et al: Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: Identification and functional characterization of 11 novel ARSA alleles. Hum Mutat. 2008, 29: E220-E230. 10.1002/humu.20851.
Article
PubMed
Google Scholar
Thomas GH: "Pseudodeficiencies" of lysosomal hydrolases. Am J Hum Genet. 1994, 54: 934-940.
PubMed Central
CAS
PubMed
Google Scholar
Tylki-Szymańska A, Czartoryska B, Vanier MT, Poorthuis BJ, et al: Non-neuronopathic Gaucher disease due to saposin C deficiency. Clin Genet. 2007, 72: 538-542. 10.1111/j.1399-0004.2007.00899.x.
Article
PubMed
Google Scholar
Parenti G: Treating lysosomal storage diseases with pharmacological chaperones: From concept to clinics. EMBO Mol Med. 2009, 1: 268-279. 10.1002/emmm.200900036.
Article
PubMed Central
CAS
PubMed
Google Scholar
Schiffmann R: Therapeutic approaches for neuronopathic lysosomal storage disorders. J Inherit Metab Dis. 2010, 33: 373-379. 10.1007/s10545-010-9047-0.
Article
CAS
PubMed
Google Scholar
Lualdi S, Tappino B, Di Duca M, Dardis A, et al: Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome. Hum Mutat. 2010, 31: 1261-1285. 10.1002/humu.21356.
Article
Google Scholar
Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, et al: Alternative splicing in the alpha-galactosidase A gene: Increased exon inclusion results in the Fabry cardiac phenotype. 2002, 70: 994-1002.
Google Scholar
Filoni C, Caciotti A, Carraresi L, Donati MA, et al: Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. Eur J Hum Genet. 2008, 16: 1311-1317. 10.1038/ejhg.2008.109.
Article
CAS
PubMed
Google Scholar
Filocamo M, Bonuccelli G, Mazzotti R, Corsolini F, et al: Somatic mosaicism in a patient with Gaucher disease type 2: Implication for genetic counselling and therapeutic decision-making. Blood Cell Mol Dis. 2000, 26: 611-612. 10.1006/bcmd.2000.0341.
Article
CAS
Google Scholar
Caciotti A, Bardelli T, Cunningham J, D'Azzo A, et al: Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. Hum Genet. 2003, 113: 44-50.
CAS
PubMed
Google Scholar
Lualdi S, Regis S, Di Rocco M, Corsolini F, et al: Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with mucopolysaccharidosis type II revealed by a rapid PCR-based method. Hum Mutat. 2005, 25: 491-497. 10.1002/humu.20165.
Article
CAS
PubMed
Google Scholar
Tayebi N, Stubblefield BK, Park JK, Orvisky E, et al: Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: Implications for complexity in Gaucher disease. Am J Hum Genet. 2003, 72: 519-534. 10.1086/367850.
Article
PubMed Central
CAS
PubMed
Google Scholar
Filocamo M, Regis S, Mazzotti R, Parenti G, et al: A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene. J Med Genet. 2001, 38: E34-10.1136/jmg.38.10.e34.
Article
PubMed Central
CAS
PubMed
Google Scholar
Zanetti A, Ferraresi E, Picci L, Filocamo M, et al: Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G > A (p.S384N) as to be a polymorphism. Eur J Hum Genet. 2009, 17: 1160-1164. 10.1038/ejhg.2009.19.
Article
PubMed Central
CAS
PubMed
Google Scholar
Lehotay DC, Hall P, Lepage J, Eichhorst JC, et al: LC-MS/MS progress in newborn screening. Clin Biochem. 2010, 44: 21-31.
Article
PubMed
Google Scholar
Chamoles NA, Blanco M, Gaggioli D: Fabry disease: Enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta. 2001, 308: 195-196. 10.1016/S0009-8981(01)00478-8.
Article
CAS
PubMed
Google Scholar
Chamoles NA, Blanco M, Gaggioli D, Casentini C: Gaucher and Niemann-Pick diseases -- Enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newborn-screening cards. Clin Chim Acta. 2002, 317: 191-197. 10.1016/S0009-8981(01)00798-7.
Article
CAS
PubMed
Google Scholar
Chamoles NA, Blanco MB, Gaggioli D, Casentini C: Hurler-like phenotype: Enzymatic diagnosis in dried blood spots on filter paper. Clin Chem. 2001, 47: 2098-2102.
CAS
PubMed
Google Scholar
Gelb MH, Turecek F, Scott CR, Chamoles NA: 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. 2006, 29: 397-404. 10.1007/s10545-006-0265-4.
Article
PubMed Central
CAS
PubMed
Google Scholar
Li Y, Scott CR, Chamoles NA, Ghavami A, et al: Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem. 2004, 50: 1785-1796. 10.1373/clinchem.2004.035907.
Article
PubMed Central
CAS
PubMed
Google Scholar
La Marca G, Casetta B, Malvagia S, Guerrini R, et al: New strategy for the screening of lysosomal storage disorders: The use of theonline trapping-and-cleanup liquid chromatography/mass spectrometry. Anal Chem. 2009, 1: 6113-6121.
Article
Google Scholar
Fletcher JM: Screening for lysosomal storage disorders -- A clinical perspective. J Inherit Metab Dis. 2006, 29: 405-408. 10.1007/s10545-006-0246-7.
Article
PubMed
Google Scholar
Zhang XK, Elbin CS, Chuang WL, Cooper SK, et al: Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin Chem. 2008, 54: 1725-1728. 10.1373/clinchem.2008.104711.
Article
CAS
PubMed
Google Scholar
De Jesus VR, Zhang XK, Keutzer J, Bodamer OA, et al: Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders. Clin Chem. 2009, 55: 158-164.
Article
CAS
PubMed
Google Scholar
Dajnoki A, Mühl A, Fekete G, Keutzer J, et al: Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry. Clin Chem. 2008, 54: 1624-1629. 10.1373/clinchem.2008.107722.
Article
CAS
PubMed
Google Scholar
Kooper AJ, Janssens PM, de Groot AN, Liebrand-van Sambeek ML, et al: Lysosomal storage diseases in non-immune hydrops fetalis pregnancies. Clin Chim Acta. 2006, 371: 176-182. 10.1016/j.cca.2006.03.007.
Article
CAS
PubMed
Google Scholar
Malvagia S, Morrone A, Caciotti A, Bardelli T, et al: New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor. Mol Genet Metab. 2004, 82: 48-55. 10.1016/j.ymgme.2004.02.007.
Article
CAS
PubMed
Google Scholar
Froissart R, Cheillan D, Bouvier R, Tourret S, et al: Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero. J Med Genet. 2005, 42: 829-836. 10.1136/jmg.2004.029744.
Article
PubMed Central
CAS
PubMed
Google Scholar