{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T16:48:26Z","timestamp":1793378906459,"version":"4.5.0"},"reference-count":74,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2008,8,1]],"date-time":"2008-08-01T00:00:00Z","timestamp":1217548800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2008,8]]},"DOI":"10.1016\/j.ymgme.2008.04.012","type":"journal-article","created":{"date-parts":[[2008,6,4]],"date-time":"2008-06-04T09:02:58Z","timestamp":1212570178000},"page":"391-396","source":"Crossref","is-referenced-by-count":266,"title":["GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects"],"prefix":"10.1016","volume":"94","author":[{"given":"Nicola","family":"Brunetti-Pierri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Scaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2008.04.012_bib1","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1126\/science.160.3831.1002","article-title":"Generalized gangliosidosis: beta-galactosidase deficiency","volume":"160","author":"Okada","year":"1968","journal-title":"Science"},{"key":"10.1016\/j.ymgme.2008.04.012_bib2","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.ymgme.2005.12.009","article-title":"Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population","volume":"88","author":"Sinigerska","year":"2006","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2008.04.012_bib3","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1007\/s004310050685","article-title":"Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism","volume":"156","author":"Coelho","year":"1997","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2008.04.012_bib4","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1034\/j.1399-0004.1999.560215.x","article-title":"High frequency of type 1 GM1 gangliosidosis in southern Brazil","volume":"56","author":"Severini","year":"1999","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib5","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1002\/humu.9451","article-title":"Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies","volume":"27","author":"Santamaria","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2008.04.012_bib6","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1023\/A:1005303332529","article-title":"Infantile generalized GM1 gangliosidosis: high incidence in the Maltese Islands","volume":"20","author":"Lenicker","year":"1997","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2008.04.012_bib7","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1089\/gte.2005.9.126","article-title":"The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village","volume":"9","author":"Georgiou","year":"2005","journal-title":"Genet. Test."},{"key":"10.1016\/j.ymgme.2008.04.012_bib8","series-title":"\u03b2-Galactosidase deficiency (\u03b2-galactosidosis) GM1-gangliosidosis and Morquio B disease","author":"Suzuki","year":"2001"},{"key":"10.1016\/j.ymgme.2008.04.012_bib9","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/BF00293589","article-title":"GM1-gangliosidosis: accumulation of ganglioside GM1 in cultured skin fibroblasts and correlation with clinical types","volume":"43","author":"Suzuki","year":"1978","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib10","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1016\/0006-291X(78)90915-4","article-title":"Macular cherry-red spots and myoclonus with dementia: coexistent neuraminidase and beta-galactosidase deficiencies","volume":"82","author":"Wenger","year":"1978","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2008.04.012_bib11","unstructured":"G. Andria, G. Pontarelli, W.S. Sly, W.E. Dodson, in: G. Tettamanti, P. Durand, S.D. DiDonato (eds.), Infantile neuraminidase and \u03b2-galactosidase deficiencies (galactosialidosis) with mild clinical courses (Sialidases and Sialidoses), Edi Ermes, Milan, Italy, 1981, pp. 379."},{"key":"10.1016\/j.ymgme.2008.04.012_bib12","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1016\/S0092-8674(88)90999-3","article-title":"Expression of cDNA encoding the human \u201cprotective protein\u201d associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases","volume":"54","author":"Galjart","year":"1988","journal-title":"Cell"},{"key":"10.1016\/j.ymgme.2008.04.012_bib13","doi-asserted-by":"crossref","first-page":"4535","DOI":"10.1073\/pnas.79.15.4535","article-title":"Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man","volume":"79","author":"D\u2019Azzo","year":"1982","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymgme.2008.04.012_bib14","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1016\/j.molcel.2004.08.029","article-title":"GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis","volume":"15","author":"Tessitore","year":"2004","journal-title":"Mol. Cell."},{"key":"10.1016\/j.ymgme.2008.04.012_bib15","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1038\/sj.cdd.4401834","article-title":"Gangliosides as apoptotic signals in ER stress response","volume":"13","author":"d\u2019Azzo","year":"2006","journal-title":"Cell. Death Differ."},{"key":"10.1016\/j.ymgme.2008.04.012_bib16","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1007\/s00401-004-0848-9","article-title":"The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction","volume":"107","author":"van der Voorn","year":"2004","journal-title":"Acta Neuropathol. (Berl.)"},{"key":"10.1016\/j.ymgme.2008.04.012_bib17","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1097\/00005072-199909000-00001","article-title":"Abnormalities of developing white matter in lysosomal storage diseases","volume":"58","author":"Folkerth","year":"1999","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.ymgme.2008.04.012_bib18","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/0887-8994(92)90361-2","article-title":"Dysmyelinogenesis in animal model of GM1 gangliosidosis","volume":"8","author":"Kaye","year":"1992","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ymgme.2008.04.012_bib19","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1093\/brain\/awg089","article-title":"Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis","volume":"126","author":"Jeyakumar","year":"2003","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2008.04.012_bib20","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1016\/j.bbrc.2007.12.187","article-title":"Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis","volume":"367","author":"Takamura","year":"2008","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2008.04.012_bib21","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1001\/archderm.139.7.916","article-title":"Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis","volume":"139","author":"Hanson","year":"2003","journal-title":"Arch. Dermatol."},{"key":"10.1016\/j.ymgme.2008.04.012_bib22","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1002\/(SICI)1096-8628(19991126)87:3<276::AID-AJMG18>3.0.CO;2-C","article-title":"Is there a relationship between extensive mongolian spots and inborn errors of metabolism?","volume":"87","author":"Silengo","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib23","doi-asserted-by":"crossref","first-page":"412","DOI":"10.2340\/0001555573412415","article-title":"GM1-gangliosidosis type 1 involving the cutaneous vascular endothelial cells in a black infant with multiple ectopic Mongolian spots","volume":"73","author":"Tang","year":"1993","journal-title":"Acta Derm. Venereol."},{"key":"10.1016\/j.ymgme.2008.04.012_bib24","doi-asserted-by":"crossref","first-page":"156","DOI":"10.2340\/00015555-0022","article-title":"Dermal melanocytosis associated with GM1-gangliosidosis type 1","volume":"86","author":"Bloch","year":"2006","journal-title":"Acta Derm. Venereol."},{"key":"10.1016\/j.ymgme.2008.04.012_bib25","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1111\/j.1399-0004.1989.tb03367.x","article-title":"Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1","volume":"36","author":"Beratis","year":"1989","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib26","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/0887-8994(94)90129-5","article-title":"Normal serum beta-galactosidase in juvenile GM1 gangliosidosis","volume":"10","author":"Ishii","year":"1994","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ymgme.2008.04.012_bib27","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/S0925-4439(99)00075-7","article-title":"Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein","volume":"1455","author":"Callahan","year":"1999","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2008.04.012_bib28","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S1096-7192(02)00199-3","article-title":"Imbalanced substrate specificity of mutant beta-galactosidase in patients with Morquio B disease","volume":"78","author":"Okumiya","year":"2003","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2008.04.012_bib29","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/S0006-291X(88)80038-X","article-title":"Cloning, sequencing, and expression of cDNA for human beta-galactosidase","volume":"157","author":"Oshima","year":"1988","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2008.04.012_bib30","doi-asserted-by":"crossref","first-page":"20655","DOI":"10.1016\/S0021-9258(19)47114-7","article-title":"Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein","volume":"264","author":"Morreau","year":"1989","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2008.04.012_bib31","doi-asserted-by":"crossref","first-page":"6319","DOI":"10.1074\/jbc.273.11.6319","article-title":"The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin\/laminin-binding protein","volume":"273","author":"Privitera","year":"1998","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2008.04.012_bib32","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1086\/302968","article-title":"Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase","volume":"67","author":"Hinek","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib33","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1002\/humu.20147","article-title":"Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis","volume":"25","author":"Caciotti","year":"2005","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2008.04.012_bib34","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L","article-title":"Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement","volume":"15","author":"Morrone","year":"2000","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2008.04.012_bib35","first-page":"1004","article-title":"Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis","volume":"54","author":"Chakraborty","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib36","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1007\/s00439-003-0930-8","article-title":"Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient","volume":"113","author":"Caciotti","year":"2003","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib37","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.1016\/S0002-9440(10)61251-5","article-title":"Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients","volume":"167","author":"Caciotti","year":"2005","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.ymgme.2008.04.012_bib38","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.cca.2006.03.007","article-title":"Lysosomal storage diseases in non-immune hydrops fetalis pregnancies","volume":"371","author":"Kooper","year":"2006","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2008.04.012_bib39","first-page":"435","article-title":"Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult\/chronic cases","volume":"49","author":"Yoshida","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib40","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/0887-8994(95)00255-3","article-title":"A common mutation site in the beta-galactosidase gene originates in Puerto Rico","volume":"14","author":"Chiu","year":"1996","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ymgme.2008.04.012_bib41","first-page":"566","article-title":"GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients","volume":"49","author":"Nishimoto","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib42","first-page":"881","article-title":"Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients","volume":"53","author":"Boustany","year":"1993","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib43","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1002\/(SICI)1098-1004(1999)13:5<401::AID-HUMU9>3.0.CO;2-N","article-title":"Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis","volume":"13","author":"Silva","year":"1999","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2008.04.012_bib44","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1177\/08830738050200010901","article-title":"Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis","volume":"20","author":"Gururaj","year":"2005","journal-title":"J. Child. Neurol."},{"key":"10.1016\/j.ymgme.2008.04.012_bib45","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1002\/humu.9475","article-title":"GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling","volume":"28","author":"Caciotti","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2008.04.012_bib46","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1111\/j.1399-0004.2007.00767.x","article-title":"Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America","volume":"71","author":"Santamaria","year":"2007","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib47","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1177\/088307389701200404","article-title":"Beta-galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis","volume":"12","author":"Kaye","year":"1997","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.ymgme.2008.04.012_bib48","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1042\/0264-6021:3480621","article-title":"Characterization of beta-galactosidase mutations Asp332>Asn and Arg148>Ser, and a polymorphism, Ser532>Gly, in a case of GM1 gangliosidosis","volume":"348 Pt. 3","author":"Zhang","year":"2000","journal-title":"Biochem. J."},{"key":"10.1016\/j.ymgme.2008.04.012_bib49","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/humu.9279","article-title":"Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis","volume":"24","author":"Georgiou","year":"2004","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2008.04.012_bib50","first-page":"1091","article-title":"Human beta-galactosidase gene mutations in morquio B disease","volume":"49","author":"Oshima","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib51","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1007\/s004390100570","article-title":"Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B","volume":"109","author":"Paschke","year":"2001","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib52","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/j.1399-0004.1995.tb04065.x","article-title":"Clinical and molecular analysis of a Japanese boy with Morquio B disease","volume":"48","author":"Ishii","year":"1995","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib53","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1007\/s10545-007-0628-5","article-title":"Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis","volume":"30","author":"Brunetti-Pierri","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2008.04.012_bib54","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1111\/j.1399-0004.1992.tb03672.x","article-title":"GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient","volume":"41","author":"Oshima","year":"1992","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib55","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1002\/humu.1380030205","article-title":"Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis","volume":"3","author":"Morrone","year":"1994","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2008.04.012_bib56","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/S0022-510X(97)00139-1","article-title":"GM1 gangliosidosis type 3 with severe jaw-closing impairment","volume":"152","author":"Hirayama","year":"1997","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.ymgme.2008.04.012_bib57","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1002\/mds.20593","article-title":"Dystonia and parkinsonism in GM1 type 3 gangliosidosis","volume":"20","author":"Roze","year":"2005","journal-title":"Mov. Disord."},{"key":"10.1016\/j.ymgme.2008.04.012_bib58","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/S0925-4439(02)00172-2","article-title":"Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease","volume":"1588","author":"Bagshaw","year":"2002","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2008.04.012_bib59","doi-asserted-by":"crossref","first-page":"2376","DOI":"10.1212\/WNL.44.12.2376","article-title":"Adult GM1 gangliosidosis: immunohistochemical and ultrastructural findings in an autopsy case","volume":"44","author":"Yoshida","year":"1994","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2008.04.012_bib60","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1002\/ana.410310316","article-title":"GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients","volume":"31","author":"Yoshida","year":"1992","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2008.04.012_bib61","unstructured":"K. Suzuki, H. Sakuraba, O. Akiro, \u03b2-galactosidase deficiency (\u03b2-galactosidosis): GM1-gangliosidosis and Morquio B disease, The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York, 1995, pp. 2785\u20132823."},{"issue":"S3","key":"10.1016\/j.ymgme.2008.04.012_bib62","first-page":"1302","article-title":"Novel missense mutations in \u03b2-galactosidase that results in GM1-gangliosidosis","volume":"55","author":"Hilson","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib63","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1023\/A:1018573518127","article-title":"Beta-galactosidase-deficient mouse as an animal model for GM1-gangliosidosis","volume":"14","author":"Matsuda","year":"1997","journal-title":"Glycoconj. J."},{"key":"10.1016\/j.ymgme.2008.04.012_bib64","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1093\/hmg\/6.2.205","article-title":"Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase","volume":"6","author":"Hahn","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2008.04.012_bib65","doi-asserted-by":"crossref","first-page":"15912","DOI":"10.1073\/pnas.2536657100","article-title":"Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis","volume":"100","author":"Matsuda","year":"2003","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymgme.2008.04.012_bib66","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1007\/s10545-005-0089-7","article-title":"Bone marrow transplantation correcting beta-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis","volume":"28","author":"Shield","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2008.04.012_bib67","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1194\/jlr.M400411-JLR200","article-title":"Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice","volume":"46","author":"Kasperzyk","year":"2005","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.ymgme.2008.04.012_bib68","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1046\/j.1471-4159.2004.02381.x","article-title":"N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis","volume":"89","author":"Kasperzyk","year":"2004","journal-title":"J. Neurochem."},{"key":"10.1016\/j.ymgme.2008.04.012_bib69","doi-asserted-by":"crossref","first-page":"1487","DOI":"10.1038\/sj.gt.3302033","article-title":"Attenuation of ganglioside GM1 accumulation in the brain of GM1 gangliosidosis mice by neonatal intravenous gene transfer","volume":"10","author":"Takaura","year":"2003","journal-title":"Gene. Ther."},{"key":"10.1016\/j.ymgme.2008.04.012_bib70","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/sj.mt.6300004","article-title":"Complete correction of enzymatic deficiency and neurochemistry in the GM1-gangliosidosis mouse brain by neonatal adeno-associated virus-mediated gene delivery","volume":"15","author":"Broekman","year":"2007","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2008.04.012_bib71","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1002\/ana.21284","article-title":"Chemical chaperone therapy: clinical effect in murine G(M1)-gangliosidosis","volume":"62","author":"Suzuki","year":"2007","journal-title":"Annals Neurol."},{"key":"10.1016\/j.ymgme.2008.04.012_bib72","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1177\/104063870401600308","article-title":"Increased concentration of GM1-ganglioside in cerebrospinal fluid in dogs with GM1- and GM2-gangliosidoses and its clinical application for diagnosis","volume":"16","author":"Satoh","year":"2004","journal-title":"J. Vet. Diagn. Invest."},{"key":"10.1016\/j.ymgme.2008.04.012_bib73","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1177\/0883073807307088","article-title":"Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis","volume":"23","author":"Brunetti-Pierri","year":"2008","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.ymgme.2008.04.012_bib74","doi-asserted-by":"crossref","first-page":"2275","DOI":"10.1194\/jlr.M700308-JLR200","article-title":"Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients","volume":"48","author":"Santamaria","year":"2007","journal-title":"J. Lipid Res."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719208001182?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719208001182?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T01:15:16Z","timestamp":1708996516000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719208001182"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,8]]},"references-count":74,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,8]]}},"alternative-id":["S1096719208001182"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2008.04.012","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2008,8]]}}}