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

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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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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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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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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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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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Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency von Krishnamurthy, V, Eschrich, K, Boney, A, Sullivan, J, McDonald, M, Kishnani, P. S, Koeberl, D. D

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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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Cholinergic therapy for Down's syndrome von Kishnani, Priya S, Sullivan, Jennifer A, Walter, Barbara Keith, Spiridigliozzi, Gail A, Doraiswamy, P Murali, Krishnan, K Ranga Rama

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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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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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Canine Model and Genomic Structural Organization of Glycogen Storage Disease Type Ia (GSD Ia) von Kishnani, P. S., Faulkner, E., VanCamp, S., Jackson, M., Brown, T., Boney, A., Koeberl, D., Chen, Y.-T.

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Diagnostic and treatment challenges of neuronopathic Gaucher disease: Two cases with an intermediate phenotype von HANNA, R, MCDONALD, M. T, SULLIVAN, J. A, MACKEY, J. F, KRISHNAMURTHY, V, KISHNANI, P. S

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Cardiac Pathology in Glycogen Storage Disease Type III von Austin, S. L., Proia, A. D., Spencer-Manzon, M. J., Butany, J., Wechsler, S. B., Kishnani, P. S.

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Nutritional deficiencies in a patient with glycogen storage disease type Ib von Kishnani, P. S., Boney, A., Chen, Y.‐T.

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Donepezil for Down's Syndrome von KISHNANI, PRIYA S., SPIRIDIGLIOZZI, GAIL A., HELLER, JAMES H., SULLIVAN, JENNIFER A., DORAISWAMY, P. MURALI, KRISHNAN, K. RANGA RAMA

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