Provoost L, Siracusa C, Stefanovski D, Che Y, Li M, Casal M
Animals (Basel). 2020; 10(3).
PMID: 32121123
PMC: 7143070.
DOI: 10.3390/ani10030397.
Pineda T, Marie S, Gonzalez J, Garcia A, Acosta A, Morales M
Mol Genet Metab Rep. 2016; 1:468-473.
PMID: 27896125
PMC: 5121354.
DOI: 10.1016/j.ymgmr.2014.10.001.
Cimaz R, La Torre F
Curr Rheumatol Rep. 2013; 16(1):389.
PMID: 24264718
DOI: 10.1007/s11926-013-0389-0.
Lee O, Kim S, Sohn Y, Park H, Lee S, Kim C
Korean J Pediatr. 2012; 55(3):88-92.
PMID: 22474463
PMC: 3315624.
DOI: 10.3345/kjp.2012.55.3.88.
Cimaz R, Coppa G, Kone-Paut I, Link B, Pastores G, Elorduy M
Pediatr Rheumatol Online J. 2009; 7:18.
PMID: 19852785
PMC: 2775028.
DOI: 10.1186/1546-0096-7-18.
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.
Sukegawa-Hayasaka K, Kato Z, Nakamura H, Tomatsu S, Fukao T, Kuwata K
J Inherit Metab Dis. 2006; 29(6):755-61.
PMID: 17091340
DOI: 10.1007/s10545-006-0440-7.
Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.
Chinen Y, Tohma T, Izumikawa Y, Uehara H, Ohta T
J Hum Genet. 2005; 50(7):357-359.
PMID: 15933803
DOI: 10.1007/s10038-005-0258-4.
A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease).
Voznyi Y, Keulemans J, van Diggelen O
J Inherit Metab Dis. 2002; 24(6):675-80.
PMID: 11768586
DOI: 10.1023/a:1012763026526.
Basic fibroblast growth factor does not prevent heparan sulphate proteoglycan catabolism in intact cells, but it alters the distribution of the glycosaminoglycan degradation products.
Tumova S, Hatch B, Law D, Bame K
Biochem J. 1999; 337 ( Pt 3):471-81.
PMID: 9895290
PMC: 1219998.
Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.
Olsen T, Eiken H, Knappskog P, Kase B, Mansson J, Boman H
Hum Genet. 1996; 97(2):198-203.
PMID: 8566953
DOI: 10.1007/BF02265265.
Biochemical diagnosis of mucopolysaccharidoses: experience of 297 diagnoses in a 15-year period (1977-1991).
Di Natale P, Annella T, Daniele A, De Luca T, Morabito E, Pallini R
J Inherit Metab Dis. 1993; 16(2):473-83.
PMID: 8412008
DOI: 10.1007/BF00710300.
The Alzheimer beta-amyloid protein precursor/protease nexin-II is cleaved by secretase in a trans-Golgi secretory compartment in human neuroglioma cells.
Kuentzel S, Ali S, Altman R, Greenberg B, Raub T
Biochem J. 1993; 295 ( Pt 2):367-78.
PMID: 8240235
PMC: 1134891.
DOI: 10.1042/bj2950367.
Diagnosis and prevention of lysosomal storage diseases in Russia.
Krasnopolskaya K, Mirenburg T, Aronovich E, Lebedeva T, Odinokova O, Demina N
J Inherit Metab Dis. 1993; 16(6):994-1002.
PMID: 8127076
DOI: 10.1007/BF00711517.
Lysophosphoinositide-specific phospholipase C in rat brain synaptic plasma membranes.
Tsutsumi T, Kobayashi T, Ueda H, Yamauchi E, Watanabe S, Okuyama H
Neurochem Res. 1994; 19(4):399-406.
PMID: 8065496
DOI: 10.1007/BF00967316.
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.
Dahl N, Hu L, Chery M, Fardeau M, Gilgenkrantz S, Nivelon-Chevallier A
Am J Hum Genet. 1995; 56(5):1108-15.
PMID: 7726166
PMC: 1801465.
Exocytosis of pinocytic contents by Chinese hamster ovary cells.
Adams C, Maurey K, Storrie B
J Cell Biol. 1982; 93(3):632-7.
PMID: 7118995
PMC: 2112155.
DOI: 10.1083/jcb.93.3.632.
Rapid cell surface appearance of endocytic membrane proteins in Chinese hamster ovary cells.
Storrie B, Dreesen T, Maurey K
Mol Cell Biol. 1981; 1(3):261-8.
PMID: 6965100
PMC: 369670.
DOI: 10.1128/mcb.1.3.261-268.1981.
Incidence of mucopolysaccharidoses in Israel: is Hunter disease a "Jewish disease"?.
Schaap T, Bach G
Hum Genet. 1980; 56(2):221-3.
PMID: 6821579
DOI: 10.1007/BF00295699.
Computed tomography studies on patients with mucopolysaccharidoses.
Watts R, Spellacy E, Kendall B, DU BOULAY G, Gibbs D
Neuroradiology. 1981; 21(1):9-23.
PMID: 6783977
DOI: 10.1007/BF00518788.
Experimental animal model for mucopolysaccharidosis: suramin-induced glycosaminoglycan and sphingolipid accumulation in the rat.
CONSTANTOPOULOS G, Rees S, CRAGG B, Barranger J, Brady R
Proc Natl Acad Sci U S A. 1980; 77(6):3700-4.
PMID: 6774343
PMC: 349686.
DOI: 10.1073/pnas.77.6.3700.