Genetic Disease

Joseph A, Munroe K, Housman M, Garman R, Richards S. 2008. Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model. Clin Exp Immunol 152:138-146.

Alexander BL, Ali RR, Alton EW, Bainbridge JW, Braun S, Cheng SH, Flotte TR, Gaspar HB, Grez M, Griesenbach U, Kaplitt MG, Ott MG, Seger R, Simons M, Thrasher AJ, Thrasher AZ, Ylä-Herttuala S. 2007. Progress and prospects: gene therapy clinical trials (part 1). Gene Ther 14:1439-1447.

Bruni S, Loschi L, Incerti C, Gabrielli O, Coppa GV. 2007. Update on treatment of lysosomal storage diseases. Acta Myol 26:87-92.

Cabrera-Salazar MA, Roskelley EM, Bu J, Hodges BL, Yew N, Dodge JC, Shihabuddin LS, Sohar I, Sleat DE, Scheule RK, Davidson BL, Cheng SH, Lobel P, Passini MA. 2007. Timing of therapeutic intervention determines functional and survival outcomes in a mouse model of late infantile Batten Disease. Mol Ther.

Case LE, Hanna R, Frush DP, Krishnamurthy V, DeArmey S, Mackey J, Boney A, Morgan C, Corzo D, Bouchard S, Weber TJ, Chen YT, Kishnani PS. 2007. Fractures in children with Pompe disease: a potential long-term complication. Pediatric Radiol 37:437-445.

Christensen EI, Zhou Q, Sorensen SS, Rasmussen AK, Jacobsen C, Feldt-Rasmussen U, Nielsen R. 2007. Distribution of {alpha}-Galactosidase A in normal human kidney and renal accumulation and distribution of recombinant {alpha}-Galactosidase A in Fabry mice. J Am Soc Nephrol.

Edmunds T. 2007. Designing protein therapies: Lessons learned from Cerezyme for Gaucher Disease. Clin Ther 29 (SUPPL. C):S75-S76.

Hawes M, Kennedy W, O'Callaghan M, Thurberg BL. 2007. Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease. Mol Genet Metab.

Jongen SP, Gerwig GJ, Leeflang BR, Koles K, Mannesse ML, van Berkel PH, Pieper FR, Kroos MA, Reuser AJ, Zhou Q, Jin X, Zhang K, Edmunds T, Kamerling JP. 2007. N-glycans of recombinant human acid alpha-glucosidase expressed in the milk of transgenic rabbits. Glycobiology 17:600-619.

Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D, Dai J, Kishnani P, Skrinar A, Corzo D, Keutzer J. 2007. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Mol Genet Metab.

Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, Leslie N, Levine J, Spencer C, McDonald M, Li J, Dumontier J, Halberthal M, Chien YH, Hopkin R, Vijayaraghavan S, Gruskin D, Bartholomew D, van der Ploeg A, Clancy JP, Parini R, Morin G, Beck M, De la Gastine GS, Jokic M, Thurberg B, Richards S, Bali D, Davison M, Worden MA, Chen YT, Wraith JE. 2007. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 68:88-89.

Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ. 2007. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype. Neurology 68:110-115.

McEachern KA, Fung J, Komarnitsky S, Siegel CS, Chuang WL, Hutto E, Shayman JA, Grabowski GA, Aerts JM, Cheng SH, Copeland DP, Marshall J. 2007. A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Mol Genet Metab 91:259-267.

Palmer RE, Amartino HM, Niizawa G, Blanco M, Pomponio RJ, Chamoles NA. 2007. Pompe disease (glycogen storage disease type II) in Argentineans: Clinical manifestations and identification of 9 novel mutations. Neuromuscul Disord 17:16-22.

Passini MA, Bu J, Fidler JA, Ziegler RJ, Foley JW, Dodge JC, Yang WW, Clarke J, Taksir TV, Griffiths DA, Zhao MA, O'Riordan CR, Schuchman EH, Shihabuddin LS, Cheng SH. 2007. Combination brain and systemic injections of AAV provide maximal functional and survival benefits in the Niemann-Pick mouse. Proc Natl Acad Sci U S A 104:9505-9510.

Reczek D, Schwake M, Schröder J, Hughes H, Blanz J, Jin X, Brondyk W, Van Patten S, Edmunds T, Saftig P. 2007. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell 131:770-783.

Richards SM. 2007. Assessing antibodies to alpha-galactosidase A in fabry disease. Clin Ther 29: S7-S8.

Sidman RL, Li J, Stewart GR, Clarke J, Yang W, Snyder EY, Shihabuddin LS. 2007. Injection of mouse and human neural stem cells into neonatal Niemann-Pick A model mice. Brain Res 1140:195-204.

Smith WE, Sullivan-Saarela JA, Li JS, Cox GF, Corzo D, Chen YT, Kishnani PS. 2007. Sibling phenotype concordance in classical infantile Pompe disease. Am J Med Genet A 143:2493-2501.

Starzyk K, Richards S, Yee J, Smith SE, Kingma W. 2007. The long-term international safety experience of imiglucerase therapy for Gaucher disease. Mol Genet Metab 90:157-163.

Tajima Y, Matsuzawa F, Aikawa S-I, Okumiya T, Yoshimizu M, Tsukimura T, Ikekita M, Tsujino S, Tsuji A, Edmunds T, Sakuraba H. 2007. Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase". J of Human Genetics 52:898-906.

Taksir TV, Griffiths D, Johnson J, Ryan S, Shihabuddin LS, Thurberg BL. 2007. Optimized preservation of CNS morphology for the identification of glycogen in the Pompe mouse model. J Histochem Cytochem.

Van Patten SM, Hughes H, Huff MR, Piepenhagen PA, Waire J, Qiu H, Ganesa C, Reczek D, Ward PV, Kutzko JP, Edmunds T. 2007. Effect of mannose chain length on targeting of glucocerebrosidase for enzyme replacement therapy of Gaucher disease. Glycobiology 17:467-478.

Wang LY, Ross AK, Li JS, Dearmey SM, Mackey JF, Worden M, Corzo D, Morgan C, Kishnani PS. 2007. Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series. Paediatr Anaesth 17:738-748.

Weinreb NJ, Barranger J, Packman S, Prakash-Cheng A, Rosenbloom B, Sims K, Angell J, Skrinar A, Pastores GM. 2007. Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin Genet 71:576-588.

Yang WW, Dodge JC, Passini MA, Taksir TV, Griffiths D, Schuchman EH, Cheng SH, Shihabuddin LS. 2007. Intraparenchymal injections of acid sphingomyelinase results in regional correction of lysosomal storage pathology in the Niemann-Pick A mouse. Exp Neurol.

Ziegler RJ, Cherry M, Barbon CM, Li C, Bercury SD, Armentano D, Desnick RJ, Cheng SH. 2007. Correction of the biochemical and functional deficits in Fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A. Mol Ther 15:492-500.

Amartino H, Painceira D, Pomponio RJ, Niizawa G, Sabio Paz V, Blanco M, Chamoles NA. 2006. Two clinical forms of glycogen-storage disease type II in two generations of the same family. Clin Genet 69:187-188.

Cachon-Gonzalez MB, Wang SZ, Lynch A, Ziegler R, Cheng SH, Cox TM. 2006. Effective gene therapy in an authentic model of Tay-Sachs-related diseases. Proc Natl Acad Sci U S A 103:10373-10378.

Dhami R, Passini MA, Schuchman EH. 2006. Identification of novel biomarkers for Niemann-Pick disease using gene expression analysis of acid sphingomyelinase knockout mice. Mole Ther 13:556-564.

Fukuda T, Ewan L, Bauer M, Mattaliano RJ, Zaal K, Ralston E, Plotz PH, Raben N. 2006. Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol 59:700-708.

Haley SM, Fragala Pinkham MA, Dumas HM, Ni P, Skrinar AM, Cox GF. 2006. A physical performance measure for individuals with mucopolysaccharidosis type I. Dev Med Child Neurol 48:576-581.

Hodges BL, Cheng SH. 2006. Cell and gene-based therapies for the lysosomal storage diseases. Curr Gene Ther 6:227-241.

Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D, Group I-OPDNHS. 2006. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 148:671-676.

Kishnani PS, Nicolino M, Voit T, Rogers RC, Tsai AC-H, Waterson J, Herman GE, Amalfitano A, Thurberg BL, Richards S, Davison M, Corzo D, Chen YT. 2006. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J of Pediatrics 149:89-97.

Kudo M, Brem MS, Canfield WM. 2006. Mucolipidosis II (I-cell disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene. Am J Hum Genet 78:451-463.

Mendelson DS, Wasserstein MP, Desnick RJ, Glass R, Simpson W, Skloot G, Vanier M, Bembi B, Giugliani R, Mengel E, Cox GF, McGovern MM. 2006. Type B Niemann-Pick disease: Findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology 238:339-345.

McEachern KA, Nietupski JB, Chuang WL, Armentano D, Johnson J, Hutto E, Grabowski GA, Cheng SH, Marshall J. 2006. AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease. J Gene Med.

Passini MA, Dodge JC, Bu J, Yang W, Zhao Q, Sondhi D, Hackett NR, Kaminsky SM, Mao Q, Shihabuddin LS, Cheng SH, Sleat DE, Stewart GR, Davidson BL, Lobel P, Crystal RG. 2006. Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis. J Neurosci 26:1334-1342.

Sawkar AR, Schmitz M, Zimmer KP, Reczek D, Edmunds T, Balch WE, Kelly JW. 2006. Chemical chaperones and permissive temperatures alter localization of Gaucher disease associated glucocerebrosidase variants. ACS Chem Biol 1:235-251.

Thurberg BL, Lynch Maloney C, Vaccaro C, Afonso K, Tsai AC, Bossen E, Kishnani PS, O'Callaghan M. 2006. Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease. Lab Invest 86:1208-1220.

Zhang H, Kallwass H, Young SP, Carr C, Dai J, Kishnani PS, Millington DS, Keutzer J, Chen YT, Bali D. 2006. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. Genet Med 8:302-306.

An Y, Young SP, Kishnani PS, Millington DS, Amalfitano A, Corzo D, Chen YT. 2005. Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease. Mol Genet Metab 85:247-254.

Barbon CM, Ziegler RJ, Li C, Armentano D, Cherry M, Desnick RJ, Schuchman EH, Cheng SH. 2005. AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick Disease. Mol Ther 12:431-440.

Dodge JC, Clarke J, Song A, Bu J, Yang W, Taksir TV, Griffiths D, Zhao MA, Schuchman EH, Cheng SH, O'Riordan CR, Shihabuddin LS, Passini MA, Stewart GR. 2005. Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease. Proc Natl Acad Sci U S A. 102:17822-17827.

Haley SM, Ni P, Fragala-Pinkham MA, Skrinar AM, Corzo D. 2005. A computer adaptive testing approach for assessing physical functioning in children and adolescents. Dev Med Child Neurol 47:113-120.

Kitagawa T, Ishige N, Suzuki K, Owada M, Ohashi T, Kobayashi M, Eto Y, Tanaka A, Mills K, Winchester B, Keutzer J. 2005. Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry. Mol Genet Metab 85:196-202.

Klinge L, Straub V, Neudorf U, Schaper J, Bosbach T, Gorlinger K, Wallot M, Richards S, Voit T. 2005. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord 15:24-31.

Kudo M, Bao M, D'Souza A, Ying F, Pan H, Roe BA, Canfield WM. 2005. The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA. J Biol Chem 280:36141-36149.

Lynch CM, Johnson J, Vaccaro C, Thurberg BL. 2005. High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology. J Histochem Cytochem 53:63-73.

Moreland RJ, Jin X, Zhang XK, Decker RW, Albee KL, Lee KL, Cauthron RD, Brewer K, Edmunds T, Canfield WM. 2005. Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor. J Biol Chem 280:6780-6791.

Passini MA, Macauley SL, Huff MR, Taksir TV, Bu J, Wu IH, Piepenhagen PA, Dodge JC, Shihabuddin LS, O'Riordan C R, Schuchman EH, Stewart GR. 2005. AAV Vector-mediated correction of brain pathology in a mouse model of Niemann-Pick A Disease. Mol Ther 11:754-762.

Percy AK, Kaye EM. 2005. Does gender parity exist in Fabry disease? Neurology 65:508-509.

Pomponio RJ, Cabrera-Salazar MA, Echeverri OY, Miller G, Barrera LA. 2005. Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations. Mol Genet Metab 86:466-472.

Raben N, Fukuda T, Gilbert AL, de Jong D, Thurberg BL, Mattaliano RJ, Meikle P, Hopwood JJ, Nagashima K, Nagaraju K, Plotz PH. 2005. Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Mol Ther 11:48-56.

Roddy TP, Nelson BC, Sung CC, Araghi S, Wilkens D, Zhang XK, Thomas JJ, Richards SM. 2005. Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy. Clin Chem 51:237-240.

Steet RA, Hullin R, Kudo M, Martinelli M, Bosshard NU, Schaffner T, Kornfeld S, Steinmann B. 2005. A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. Am J Med Genet A 132:369-375.

Zhu Y, Li X, McVie-Wylie A, Jiang C, Thurberg BL, Raben N, Mattaliano RJ, Cheng SH. 2005. Carbohydrate-remodeled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice. Biochem J.

Chan KW, Waire J, Simons B, Karey K, Fung J, Copeland D, Andrews L. 2004. Measurement of lysosomal glucocerebrosidase activity in mouse liver using a fluorescence-activated cell sorter assay. Anal Biochem 334:227-233.

Du H, Schiavi S, Wan N, Levine M, Witte DP, Grabowski GA. 2004. Reduction of atherosclerotic plaques by lysosomal acid lipase supplementation. Arterioscler Thromb Vasc Biol 24:147-154.

Dumas HM, Fragala MA, Haley SM, Skrinar AM, Wraith JE, Cox GF. 2004. Physical performance testing in mucopolysaccharidosis I: a pilot study. Pediatr Rehabil 7:125-131.

Garman RD, Munroe K, Richards SM. 2004. Methotrexate reduces antibody responses to recombinant human alpha-galactosidase A therapy in a mouse model of Fabry disease. Clin Exp Immunol 137:496-502.

Haley SM, Fragala-Pinkham MA, Ni PS, Skrinar AM, Kaye EM. 2004. Pediatric physical functioning reference curves. Pediatr Neurol 31:333-341.

Hodges BL, Taylor KM, Joseph MF, Bourgeois SA, Scheule RK. 2004. Long-term transgene expression from plasmid DNA gene therapy vectors is negatively affected by CpG dinucleotides. Mol Ther. 10:269-278.

Hunley TE, Corzo D, Dudek M, Kishnani P, Amalfitano A, Chen YT, Richards SM, Phillips JA, 3rd, Fogo AB, Tiller GE. 2004. Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease. Pediatrics 114:e532-535.

McVie-Wylie AJ, Rogers CA, Thurberg BL, Andrews L. 2004. Enzyme replacement therapy and the effect of age in the mouse model of Pompe disease. J of Inher Metab Dis 26:162.

Nelson BC, Roddy T, Araghi S, Wilkens D, Thomas JJ, Zhang K, Sung CCC, Richards SM. 2004. Globotriaosylceramide isoform profiles in human plasma by liquid chromatography-tandem mass spectrometry. J Chromatog, B: Analyt Tech in the Biomed & Life Sci 805:127-134.

Przybylska M, Wu IH, Zhao H, Ziegler RJ, Tousignant JD, Desnick RJ, Scheule RK, Cheng SH, Yew NS. 2004. Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors. J Gene Med 6:85-92.

Shihabuddin LS, Numan S, Huff MR, Dodge JC, Clarke J, Macauley SL, Yang W, Taksir TV, Parsons G, Passini MA, Gage FH, Stewart GR. 2004. Intracerebral transplantation of adult mouse neural progenitor cells into the Niemann-Pick-A mouse leads to a marked decrease in lysosomal storage pathology. J Neurosci 24:10642-10651.

Sleat DE, Wiseman JA, El-Banna M, Kim KH, Mao Q, Price S, Macauley SL, Sidman RL, Shen MM, Zhao Q, Passini MA, Davidson BL, Stewart GR, Lobel P. 2004. A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration. J Neurosci 24:9117-9126.

Surendran S, Shihabuddin LS, Clarke J, Taksir TV, Stewart GR, Parsons G, Yang W, Tyring SK, Michals-Matalon K, Matalon R. 2004. Mouse neural progenitor cells differentiate into oligodendrocytes in the brain of a knockout mouse model of Canavan disease. Brain Res Dev Brain Res 153:19-27.

Thurberg BL, Randolph Byers H, Granter SR, Phelps RG, Gordon RE, O'Callaghan M. 2004. Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies. J Invest Dermatol 122:900-908.

Thurberg BL, Phelps RG, Granter SR, Byers R, Gordon RE, O'Callaghan M. 2004. Fabrazyme clears globotriaosylceramide from the skin of Fabry patients. J of Inher Metab Dis 26:174.

Weisberger J, Emmons F, Gorczyca W. 2004. Cytochemical diagnosis of Gaucher's disease by iron stain. Br J Haematol 124:696.

Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Swiedler SJ, Kakkis ED, Braakman T, Chadbourne E, Walton-Bowen K, Cox GF. 2004. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 144:581-588.

Zhu Y, Li X, Kyazike J, Zhou Q, Thurberg BL, Raben N, Mattaliano RJ, Cheng SH. 2004. Conjugation of mannose 6-phosphate-containing oligosaccharides to acid alpha-glucosidase improves the clearance of glycogen in pompe mice. J Biol Chem 279:50336-50341.

Zhu Y, Li X, Schuchman EH, Desnick RJ, Cheng SH. 2004. Dexamethasone-mediated up-regulation of the mannose receptor improves the delivery of recombinant glucocerebrosidase to Gaucher macrophages. J Pharmacol Exp Ther 308:705-711.

Ziegler RJ, Lonning SM, Armentano D, Li C, Souza DW, Cherry M, Ford C, Barbon CM, Desnick RJ, Gao G, Wilson JM, Peluso R, Godwin S, Carter BJ, Gregory RJ, Wadsworth SC, Cheng SH. 2004. AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice. Mol Ther 9:231-240.

Allitto BA, Sugarman EA. 2003. Commentary on "The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation" by Brautbar et al. Blood Cells Mole & Dise 31:190-191.

Cheng SH, Smith AE. 2003. Gene therapy progress and prospects: gene therapy of lysosomal storage disorders. Gene Ther 10:1275-1281.

Lee KL, Baker-Malcolm J, Albee KL, Edmunds T, Mattaliano RJ. 2003. A biochemical comparison of recombinant human acid alpha-glucosidase expressed in CHO cells and transgenic rabbits. Am J Hum Genet 73:627.

Lee K, Jin X, Zhang K, Copertino L, Andrews L, Baker-Malcolm J, Geagan L, Qiu H, Seiger K, Barngrover D, McPherson JM, Edmunds T. 2003. A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 13:305-313.

Passini MA, L. MS, Huff MR, Taksir TV, Yew NS, O'Riordan CR, Schuchman EH, Stewart GR. 2003. Widespread gene delivery and reversal of pathology in the brains of Niemann-Pick A mice by retrograde axonal transport of a therapeutic AAV vector. Soc for Neuroscience Prog No. 97.13:537.513.

Qiu H, Edmunds T, Baker-Malcolm J, Karey KP, Estes S, Schwarz C, Hughes H, Van Patten SM. 2003. Activation of human acid sphingomyelinase through modification or deletion of C-terminal cysteine. J Biol Chem 278:32744-32752.

Raben N, Danon M, Gilbert AL, Dwivedi S, Collins B, Thurberg BL, Mattaliano RJ, Nagaraju K, Plotz PH. 2003. Enzyme replacement therapy in the mouse model of Pompe disease. Mol Genet Metab 80:159-169.

Roeber D, Achari A, Manavalan P, Edmunds T, Scott DL. 2003. Crystallization and preliminary X-ray analysis of recombinant human acid beta-glucocerebrosidase, a treatment for Gaucher's disease. Acta Crystallogr D Biol Crystallogr 59:343-344.

Terlato NJ, Cox GF. 2003. Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. Genet Med 5:286-294.

Yew NS, Przybylska M, Wu IH, Zhao H, Ziegler RJ, Tousignant JD, Desnick RJ, Scheule RK, Cheng SH. 2003. Correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors. J of Inher Metab Dis 26:146.

Barngrover D. 2002. Fabrazyme--recombinant protein treatment for Fabry's disease. J Biotechnol 95:280-282.

Baigent G, Barngrover D. 2002. Recombinant interleukin-2 (aldesleukin) for oncology and HIV disease and recombinant protein treatment (Fabrazyme) for Fabry's disease (No. 14 in a series of articles to promote a better understanding of the use of genetic engineering). J Biotech 95:277-283.

Kaye EM, Sena-Esteves M. 2002. Gene therapy for the central nervous system in the lysosomal storage disorders. Neurol Clin 20:879-901.

Li C, Ziegler RJ, Cherry M, Lukason M, Desnick RJ, Yew NS, Cheng SH. 2002. Adenovirus-transduced lung as a portal for delivering alpha-galactosidase A into systemic circulation for Fabry disease. Mol Ther 5:745-754.

Marshall J, McEachern KA, Kyros JA, Nietupski JB, Budzinski T, Ziegler RJ, Yew NS, Sullivan J, Scaria A, van Rooijen N, Barranger JA, Cheng SH. 2002. Demonstration of feasibility of in vivo gene therapy for Gaucher disease using a chemically induced mouse model. Mol Ther 6:179-189.

Richards SM. 2002. Immunologic considerations for enzyme replacement therapy in the treatment of lysosomal storage disorders. In: Clin & App Immunol Rev: Elsevier Science. p 241-253.

Thurberg BL, Rennke H, Colvin RB, Dikman S, Gordon RE, Collins AB, Desnick RJ, O'Callaghan M. 2002. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 62:1933-1946.

Ziegler RJ, Li C, Cherry M, Zhu Y, Hempel D, van Rooijen N, Ioannou YA, Desnick RJ, Goldberg MA, Yew NS, Cheng SH. 2002. Correction of the nonlinear dose response improves the viability of adenoviral vectors for gene therapy of Fabry disease. Hum Gene Ther 13:935-945.

Du H, Schiavi S, Levine M, Mishra J, Heur M, Grabowski GA. 2001. Enzyme therapy for lysosomal acid lipase deficiency in the mouse. Hum Mol Genet 10:1639-1648.

Yew NS, Cheng SH. 2001. Gene therapy for lysosomal storage disorders. Curr Opin Mol Ther 3:399-406.