Genetic Disease

Arn P, Wraith JE, Underhill L. 2009. Characterization of surgical procedures in patients with Mucopolysaccharidosis Type I: findings from the MPS I Registry. J Pediatr 11 Feb 2009 [Epub ahead of print].

Bénichou B, Goyal S, Sung C, Norfleet AM, O'Brien F. 2009. A retrospective analysis of the potential impact of IgG antibodies to agalsidase beta on efficacy during enzyme replacement therapy for Fabry disease. Mol Genet Metab 96(1):4-12.

De Jesus VR, Zhang XK, Keutzer J, Bodamer OA, Muhl A, Orsini J, Caggana M, Vogt RF, Hannon WH. 2009. Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders. Clinical Chemistry 55(1):158-64.

Dodge JC, Clarke J, Treleaven CM, Taksir TV, Griffiths DA, Yang W, Fidler JA, Passini MA, Karey KP, Schuchman EH, Cheng SH, Shihabuddin LS. 2009. Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann-Pick A disease. Experimental Neuro 215(2):349-57.

Gasparotto N, Tomanin R, Frigo AC, Niizawa G, Pasquini E, Blanco M, Donati MA, Keutzer J, Zacchello F, Scarpa M. 2009. Rapid diagnostic testing procedures for lysosomal storage disorders: α-glucosidase and β-galactosidase assays on dried blood spots. Clinica Chimica Acta 402 (1-2):38-41.

Giugliani R, Rojas VM, Martins AM, Valadares ER, Clarke JTR, Goes JEC, Kakkis ED, Worden MA, Sidman M, Cox GF. 2009. A dose-optimization trial of laronidase (Aldurazyme®) in patients with mucopolysaccharidosis I. Molecular Genetics and Metabolism 96(1):13-19.

Lubanda JC, Anijalg E, Bzdúch V, Thurberg BL, Bénichou B, Tylki-Szymanska A. 2009. Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease. Genet Med 2009 Mar 4. [Epub ahead of print].

Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo JC, Smitka M, Jardine P, Tatò L, Chabrol B, McCandless S, Kimura S, Mehta L, Bali D, Skrinar A, Morgan C, Rangachari L, Corzo D, Kishnani PS. 2009. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med 11(3):210-9.

Olivova P, der Veen KV, Cullen E, Rose M, Zhang XK, Sims KB, Keutzer J, Browning MF. 2009. Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper. Clin Chim Acta 2009 Feb 24. [Epub ahead of print].

Stefano JE, Hou L, Honey D, Kyazike J, Park A, Zhou Q, Pan CQE, T. 2009. In vitro and in vivo evaluation of a non-carbohydrate targeting platform for lysosomal proteins. J Control Release 24 Dec 2008 [Epub ahead of print].

Ziegler RJ, Brown C, Barbon CM, D'Angona AM, Schuchman EH, Andrews L, Thurberg BL, McPherson JM, Karey KP, Cheng SH. 2009. Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann-Pick disease. Mole Genet Metab 25 Jan 2009 [Epub ahead of print].

Bodamer O, De Jesus V, Keutzer J, Zhang K, Hwu W-L, Mühl A. 2008. Screening of newborns for Pompe disease and/or other lysosomal storage disorders. Clinical Therapeutics 30(SUPPL. 1):S8.

Bodamer OA, Dajnoki A, Fekete G, Keutzer J, Orsini J, DeJesus VR, Zhang K, Mühl A. 2008. Newborn screening of lysosomal storage disorders in Austria. Clin Ther 30(SUPPL. 3):S78.

Bodensteiner D, Scott CR, Sims KB, Shepherd GM, Cintron RD, Germain DP. 2008. Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme. Genetics in Medicine 10(5):353-8.

Chien YH, Chiang SC, Zhang XK, Keutzer J, Lee NC, Huang AC, Chen CA, Wu MH, Huang PH, Tsai FJ, Chen YT, Hwu WL. 2008. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 122(1):e39-45.

Corzo D, Byrne B, Hwu W-L, Leslie N, Mandel H, Nicolino M. 2008. Alglucosidase Alfa (Myozyme®) in infants and children with rapidly progressive Pompe disease. Clinical Therapeutics 30(SUPPL. 1):S9-S10.

Cox TM, Aerts JMFG, Belmatoug N, Cappellini MD, Dahl S, Goldblatt J, Grabowski GA, Hollak CEM, Hwu P, Maas M, Martins AM, Mistry PK, Pastores GM, Tylki-Szymanska A, Yee J, Weinreb N. 2008. Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. J Inherited Metabolic Dis 31(3):319-36.

Dajnoki A, Mühl A, Fekete G, Keutzer J, Orsini J, Dejesus V, Zhang XK, Bodamer OA. 2008. Newborn screening for Pompe Disease by measuring acid {alpha}-glucosidase activity using tandem mass spectrometry. Clin Chem 54(10):1624-9.

Dodge JC, Clarke J, Treleaven CM, Taksir TV, Griffiths DA, Yang W, Fidler JA, Passini MA, Karey KP, Schuchman EH, Cheng SH, Shihabuddin LS. 2008. Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann-Pick A disease. Exp Neurol 2008 Nov 14. [Epub ahead of print].

Fairley C, Zimran A, Phillips M, Cizmarik M, Yee J, Weinreb N, Packman S. 2008. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: An analysis of 798 patients from the ICGG Gaucher Registry. J of Inher Metab Dis 31(6):738-44.

Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, Lemay R, Tylki-Szymanska A, Wilcox WR. 2008. Characterization of Fabry Disease in 352 pediatric patients in the Fabry Registry. Pediatric Res [2008 Jun 25. Epub ahead of print].

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.

Kroos MA, Mullaart RA, Van Vliet L, Pomponio RJ, Amartino H, Kolodny EH, Pastores GM, Wevers RA, Van der Ploeg AT, Halley DJJ, Reuser AJJ. 2008. p.[G576S; E689K]: Pathogenic combination or polymorphism in Pompe disease? Eu J Human Genetics 16(8):875-9.

Maas M, Hangartner T, Mariani G, McHugh K, Moore S, Grabowski GA, Kaplan P, Vellodi A, Yee J, Steinbach L. 2008. Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Skeletal Radiology 37(3):185-8.

Macauley SL, Sidman RL, Schuchman EH, Taksir T, Stewart GR. 2008. Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure-function studies associated with cerebellar Purkinje cell degeneration. Exp Neurol 214(2):181-92.

McDowell R, Li JS, Benjamin Jr. DK, Morgan C, Becker A, Kishnani PS, Kanter RJ. 2008. Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease. Genet in Med 10(10):758-62.

McVie-Wylie AJ, Lee KL, Qiu H, Jin X, Do H, Gotschall R, Thurberg BL, Rogers C, Raben N, O'Callaghan M, Canfield W, Andrews L, McPherson JM, Mattaliano RJ. 2008. Biochemical and pharmacological characterization of different recombinant acid α-glucosidase preparations evaluated for the treatment of Pompe disease. Mol Genet Metab 94(4):448-55.

Olivova P, Cullen E, Titlow M, Kallwass H, Barranger J, Zhang K, Keutzer J. 2008. An improved high-throughput dried blood spot screening method for Gaucher disease. Clinica Chimica Acta 398(1-2):163-4.

Sidman RL, Taksir T, Fidler J, Zhao M, Dodge JC, Passini MA, Raben N, Thurberg BL, Cheng SH, Shihabuddin LS. 2008. Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice. J Neuropathol Exp Neurol 67(8):803-18.

Sims KB, Pastores GM, Weinreb NJ, Barranger J, Rosenbloom BE, Packman S, Kaplan G, Mankin H, Xavier R, Angell J, Fitzpatrick MA, Rosenthal D. 2008. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: Results of a 48-month longitudinal cohort study. Clin Genet 73(5):430-40.

Sobreira EAP, Bruniera P. 2008. Evaluation of two years of treatment with enzyme replacement therapy in type 1 Gaucher disease patients of São Paulo State, Brazil. Revista Brasileira de Hemtologia e Hemoterapia 30(3):193-201.

.Thurberg B. 2008. Insights into the pathophysiology of Pompe disease. Clinical Therapeutics 30(SUPPL. 1):S3.

Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, Vom Dahl S. 2008. Life expectancy in Gaucher disease type 1. Amer J Hematology 83(12):896-900.

Weinreb N, Taylor J, Cox T, Yee J, Vom Dahl S. 2008. A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase. Amer J Hematology 83(12):890-5.

Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock,DG, Lemay RM, Germain DP. 2008. Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry. Mol Genet Metab 93(2):112-28.

Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J. 2008. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting. Mole Genetics & Metabolism 93(3):275-81.

Wokke JHJ, Escolar DM, Pestronk A, Jaffe KM, Carter GT, Van Den Berg LH, Florence JM, Mayhew J, Skrinar A, Corzo D, Laforet, P. 2008. Clinical features of late-onset Pompe disease: A prospective cohort study. Muscle and Nerve 38(4):1236-45.

Yoshimizu M, Tajima Y, Matsuzawa F, Aikawa S-i, IIwamoto K, Kobayashi T, Edmunds T, Fujishima K, Tsuji D, Itoh K, Ikekita M, Kawashima I, Sugawara K, Ohyanagi N, Suzuki T, Togawa T, Ohno K, Sakuraba H. 2008. Binding parameters and thermodynamics of the interaction of imino sugars with a recombinant human acid α-glucosidase (alglucosidase alfa): Insight into the complex formation mechanism. Clinica Chimica Acta 391(1-2):68-73.

Zhang XK, Elbin CS, Chuang WL, Cooper SK, Marashio CA, Beauregard C, Keutzer JM. 2008. Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin Chem 54(10):1725-8.

Ziegler RJ, Bercury SD, Fidler J, Zhao MA, Foley J, Taksir TV, Ryan S, Hodges BL, Scheule RK, Shihabuddin LS, Cheng SH. 2008. Ability of adeno-associated virus serotype 8-mediated hepatic expression of acid α-glucosidase to correct the biochemical and motor function deficits of presymptomatic and symptomatic pompe mice. Human Gene Therapy 19(6):609-21.

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, Charrow J, Dulisse B, Grabowski GA, Weinreb NJ. 2007. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet 71(3):205-11.

Chavez CA, Bohnsack RN, Kudo M, Gotschall RR, Canfield WM, Dahms NM. 2007. Domain 5 of the cation-independent mannose 6-phosphate receptor preferentially binds phosphodiesters (mannose 6-phosphate N-acetylglucosamine ester). Biochemistry 46(44):12604-17.

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.

Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, Lee P, Loew T, Vedder AC, Abichandani R, Wilcox WR, Guffon N. 2007. Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with fabry disease. J Amer Soc of Nephrology 18(5):1547-57.

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. Erratum to "Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots". Mol Genet Metab 92(3):285.

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, Mistry PK, Sadan S, Yang R, Yee J, Yang M. 2007. Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists-Oncologists and an opportunity for early diagnosis and intervention. Amer J Hematology 82(8):697-701.

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.

Sifuentes M, Doroshow R, Hoft R, Mason G, Walot I, Diament M, Okazaki S, Huff K, Cox GF, Swiedler SJ, Kakkis ED. 2007. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mole Genetics & Metabolism 90(2):171-80.

Smith A. 2007. Lysosomal storage disorders - A vision of the future. Clinical Therapeutics 29(SUPPL. C):S74

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.

Sobreira E, Pires RF, Cizmarik M, Grabowski GA. 2007. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: A comparison between Brazil and the rest-of-the-world. Molecular Genetics & Metabolism 90(1):81-6

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.

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