Rare lysosomal disease registries: lessons learned over three decades of real-world evidence von Mistry, P K, Kishnani, P, Wanner, C, Dong, D, Bender, J, Batista, J L, Foster, J

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Recombinant human acid α-glucosidase : Major clinical benefits in infantile-onset Pompe disease von KISHNANI, P. S, CORZO, D, LI, J, DUMONTIER, J, HALBERTHAL, M, CHIEN, Y. H, HOPKIN, R, VIJAYARAGHAVAN, S, GRUSKIN, D, BARTHOLOMEW, D, VAN DER PLOEG, A, CLANCY, J. P, NICOLINO, M, PARINI, R, MORIN, G, BECK, M, DE LA GASTINE, G. S, JOKIC, M, THURBERG, B, RICHARDS, S, BALI, D, DAVISON, M, WORDEN, M. A, BYRNE, B, CHEN, Y. T, WRAITH, J. E, MANDEL, H, HWU, W. L, LESLIE, N, LEVINE, J, SPENCER, C, MCDONALD, M

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Immunomodulatory, liver depot gene therapy for Pompe disease von Bond, J.E., Kishnani, P.S., Koeberl, D.D.

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A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United States von Dahir, K. M., Rush, E. T., Diaz-Mendoza, S., Kishnani, P. S.

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A role for plasma cell targeting agents in immune tolerance induction in autoimmune disease and antibody responses to therapeutic proteins von Rosenberg, A.S, Pariser, A.R, Diamond, B, Yao, L, Turka, L.A, Lacana, E, Kishnani, P.S

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Divergent phenotypes in Gaucher disease implicate the role of modifiers von Goker-Alpan, O, Hruska, K S, Orvisky, E, Kishnani, P S, Stubblefield, B K, Schiffmann, R, Sidransky, E

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Hepatocellular carcinoma in glycogen storage disease type Ia: A case series von Franco, L. M., Krishnamurthy, V., Bali, D., Weinstein, D. A., Arn, P., Clary, B., Boney, A., Sullivan, J., Frush, D. P., Chen, Y.‐T., Kishnani, P. S.

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Glycogen Storage Disease Type III diagnosis and management guidelines von Kishnani, Priya S., Austin, Stephanie L., Arn, Pamela, Bali, Deeksha S., Boney, Anne, Case, Laura E., Chung, Wendy K., Desai, Dev M., El-Gharbawy, Areeg, Haller, Ronald, Smit, G. Peter A., Smith, Alastair D., Hobson-Webb, Lisa D., Wechsler, Stephanie Burns, Weinstein, David A., Watson, Michael S.

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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting von Winchester, B., Bali, D., Bodamer, O.A., 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, O.P., Wuyts, B., Zakharova, E., Keutzer, J.

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Emerging therapies for glycogen storage disease type I von Koeberl, D.D, Kishnani, P.S, Bali, D, Chen, Y-T

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HLA- and genotype-based risk assessment model to identify infantile onset pompe disease patients at high-risk of developing significant anti-drug antibodies (ADA) von De Groot, A.S., Kazi, Z.B., Martin, R.F., Terry, F.E., Desai, A.K., Martin, W.D., Kishnani, P.S.

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Glycogen storage disease types I and II: Treatment updates von Koeberl, D. D., Kishnani, P. S., Chen, Y. T.

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668P Pompe Registry: Real-world experience of patients with late-onset Pompe disease who switched therapy from alglucosidase alfa to avalglucosidase alfa von Schoser, B., Toscano, A., Foster, M., Sparks, S., Kishnani, P.

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P.025 Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in participants with late-onset Pompe disease (LOPD) von Tarnopolsky, M, Attarian, S, Borges, J, Bouhour, F, Choi, Y, Clemens, P, Day, J, Díaz-Manera, J, Erdem-Ozdamar, S, Goker-Alpan, O, Illarioshkin, S, Kishnani, PS, Kostera-Pruszczyk, A, Kushlaf, H, Ladha, S, Mozaffar, T, Roberts, M, Straub, V, Toscano, A, van der Ploeg, AT, An Haack, K, Hug, C, Huynh-Ba, O, Johnson, J, Zhou, T, Dimachkie, MM, Schoser, B

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A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gauch... von Kishnani, P.S., DiRocco, M., Kaplan, P., Mehta, A., Pastores, G.M., Smith, S.E., Puga, A.C., Lemay, R.M., Weinreb, N.J.

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Successful combined liver/kidney transplantation from a donor with Pompe disease von Halldorson, J., Kazi, Z., Mekeel, K., Kuo, A., Hassanein, T., Loomba, R., Austin, S., Valasek, M.A., Kishnani, P., Hemming, A.W.

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Benzoate treatment and the glycine index in nonketotic hyperglycinaemia von Van Hove, J. L. K., Kerckhove, K. Vande, Hennermann, J. B., Mahieu, V., Declercq, P., Mertens, S., De Becker, M., Kishnani, P. S., Jaeken, J.

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Evaluation of 3‐methylcrotonyl‐CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening von Koeberl, D. D., Millington, D. S., Smith, W. E., Weavil, S. D., Muenzer, J., McCandless, S. E., Kishnani, P. S., McDonald, M. T., Chaing, S., Boney, A., Moore, E., Frazier, D. M.

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Fracture burden in children and adults with hypophosphatasia von Whyte, M, Greenberg, C.R, Kishnani, P, Mhanni, A, Mayhew, J, Case, L, Siener, C, Lim, V, Kreher, N, Skrinar, A

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20947. ANÁLISIS DEL TAMAÑO DEL EFECTO DE CIPAGLUCOSIDASA ALFA MÁS MIGLUSTAT FRENTE A ALGLUCOSIDASA-ALFA EN ADULTOS CON ENFERMEDAD DE POMPE DE INICIO TARDÍO PRETRATADOS CON TERAPIA... von Aguinaga-Barrilero, A., Alonso Pérez, J., Bratkovic, D., Byrne, B., Claeys, K., Clemens, P., Díaz Manera, J., Dimachkie, M., Kishnani, P., Kushlaf, H., Roberts, M., Toscano, A., Castelli, J., Holdbrook, F., Sitaraman Das, S., Mozaffar, T., Schoser, B.

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