Pompe disease diagnosis and management guideline von Kishnani, Priya S, Steiner, Robert D, Bali, Deeksha, Berger, Kenneth, Byrne, Barry J, Case, Laura E, Case, Laura, Crowley, John F, Downs, Steven, Howell, R Rodney, Kravitz, Richard M, Mackey, Joanne, Marsden, Deborah, Martins, Anna Maria, Millington, David S, Nicolino, Marc, O'Grady, Gwen, Patterson, Marc C, Rapoport, David M, Slonim, Alfred, Spencer, Carolyn T, Tifft, Cynthia J, Watson, Michael S

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The pathophysiology and mechanisms of NP-C disease von Sturley, Stephen L., Patterson, Marc C., Balch, William, Liscum, Laura

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Therapy of Niemann–Pick disease, type C von Patterson, Marc C., Platt, Frances

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Identification of 58 novel mutations in Niemann‐Pick disease type C: Correlation with biochemical phenotype and importance of PTC1‐like domains in NPC1 von Park, Walter D., O'Brien, John F., Lundquist, Patrick A., Kraft, Daniel L., Vockley, Cate Walsh, Karnes, Pamela S., Patterson, Marc C., Snow, Karen

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A Riddle Wrapped in a Mystery: Understanding Niemann-Pick Disease, Type C von Patterson, Marc C.

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The Niemann-Pick C1 Protein Resides in a Vesicular Compartment Linked to Retrograde Transport of Multiple Lysosomal Cargo von Neufeld, E B, Wastney, M, Patel, S, Suresh, S, Cooney, A M, Dwyer, N K, Roff, C F, Ohno, K, Morris, J A, Carstea, E D, Incardona, J P, Strauss, 3rd, J F, Vanier, M T, Patterson, M C, Brady, R O, Pentchev, P G, Blanchette-Mackie, E J

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P265 – 1749 A novel suspicion index tool to aid diagnosis of Niemann-Pick disease type C (NP-C) in paediatric patients von Hendriksz, CJ, Patterson, MC, Kolb, SA, Chadha-Boreham, H

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Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) von Kim, S, Westphal, V, Srikrishna, G, Mehta, D P, Peterson, S, Filiano, J, Karnes, P S, Patterson, M C, Freeze, H H

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Niemann-Pick C Variant Detection by Altered Sphingolipid Trafficking and Correlation with Mutations within a Specific Domain of NPC1 von Sun, Xiaofeng, Marks, David L., Park, Walter D., Wheatley, Christine L., Puri, Vishwajeet, O’Brien, John F., Kraft, Daniel L., Lundquist, Patrick A., Patterson, Marc C., Pagano, Richard E., Snow, Karen

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1035 The International Registry for Niemann-Pick Disease Type C (NP-C) in Clinical Practice von Wijburg, FA, Mengel, E, Patterson, MC, Wraith, JE, Vanier, MT, Schwierin, B, Muller, A, Drevon, H, Pineda, M

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1032 The Niemann-Pick Type C Suspicion Index Tool: Examination of its Discriminatory Power by Age and Associations by Leading Symptoms von Hendriksz, CJ, Pineda, M, Wijburg, FA, Sedel, F, Fahey, M, Walterfang, M, Patterson, MC, Chadha-Boreham, H, Kolb, SA, Wraith, JE

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Broad screening test for sphingolipid-storage diseases von Chen, Chii-Shiamg, Patterson, Marc C, O'Brien, John F, Pagano, Richard E, Wheatley, Christine L

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Azide and Cyanide Displacements via Hypervalent Silicate Intermediates von Soli, Eric D, Manoso, Amy S, Patterson, Michael C, DeShong, Philip, Favor, David A, Hirschmann, Ralph, Smith, Amos B

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PP4.0 – 1506 Longitudinal outcomes from the international disease registry for Niemann-Pick disease type C (NP-C) von Pineda, M, Mengel, E, Wijburg, FA, Vanier, MT, Schwierin, B, Muller, A, Drevon, H, Patterson, MC

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Holoprosencephaly: the face predicts the brain; the image predicts its function von Patterson, Marc C

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Mental retardation: X marks the spot von Patterson, Marc C, Zoghbi, Huda Y

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Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly von Quiram, P A, Ohno, K, Milone, M, Patterson, M C, Pruitt, N J, Brengman, J M, Sine, S M, Engel, A G

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Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease von Schiffmann, Raphael, Heyes, Melvyn P., Aerts, J. M., Dambrosia, James M., Patterson, Marc C., DeGraba, Thomas, Parker, Colette C., Zirzow, Gregory C., Oliver, Katherine, Tedeschi, Gioacchino, Brady, Roscoe O., Barton, Norman W.

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Cardiac troponin I for the diagnosis of acute myocardial infarction in the emergency department von D'COSTA, M, FLEMING, E, PATTERSON, M. C

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Rectal Biopsy in the Diagnosis of Neuronal Intranuclear Hyaline Inclusion Disease von Kulikova-Schupak, Romana, Knupp, Kelly G., Pascual, Juan M., Chin, Steven S., Kairam, Ram, Patterson, Marc C.

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