Search Results - "Raiman, Julian A.J."

Late‐Onset Ornithine Transcarbamylase Deficiency Presenting With Asymptomatic Liver Dysfunction by Nightingale, Scott, Raiman, Julian A.J., Cutz, Ernest, Faghfoury, Hanna, Ng, Vicky L.

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Update on safety and efficacy results for phase I/II trial of hydroxypropyl betacyclodextrin (HPâCD) administered intravenously in patients with Niemann-Pick disease type C1 by Raiman, Julian A.J., Sharma, Reena, Paucar, Martin, Staretz-Chacham, Orna, Spiegel, Ronen, Boyd, Alan, Hastings, Caroline, Hrynkow, Sharon H.

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Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT by Banugaria, Suhrad G, Prater, Sean N, Patel, Trusha T, Dearmey, Stephanie M, Milleson, Christie, Sheets, Kathryn B, Bali, Deeksha S, Rehder, Catherine W, Raiman, Julian A J, Wang, Raymond A, Labarthe, Francois, Charrow, Joel, Harmatz, Paul, Chakraborty, Pranesh, Rosenberg, Amy S, Kishnani, Priya S

“…Although enzyme replacement therapy (ERT) is a highly effective therapy, CRIM-negative (CN) infantile Pompe disease (IPD) patients typically mount a strong…”
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Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism by Atkinson, Celia, Miousse, Isabelle R., Watkins, David, Rosenblatt, David S., Raiman, Julian A. J.

“…Disorders of intracellular cobalamin (vitamin B12) metabolism result from deficient synthesis of the coenzymes derived from vitamin B12: adenosylcobalamin and…”
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Case 2: A teenager with nausea, vomiting and dysarthria by Atkinson, Celia, Kamath, Binita M, Mandelcorn, Jeff, Cutz, Ernest, Raiman, Julian Aj

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