Severe Developmental Delay and Behavior Abnormalities in a Patient with De Novo CAMK2B Mutation: A Case Report and Literature Review von Zhang, Katherynn K, Rupar, Charles A, Prasad, Chitra

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Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy von Prasad, Asuri N, Rupar, Charles A, Prasad, Chitra

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Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy von Rossi, Alessandro, Romano, Roberta, Fecarotta, Simona, Dell’Anno, Margherita, Pecorella, Valentina, Passeggio, Roberta, Zancan, Stefano, Parenti, Giancarlo, Santamaria, Francesca, Borgia, Francesco, Deodato, Federica, Funghini, Silvia, Rupar, Charles A., Prasad, Chitra, O’Callaghan, Mar, Mitchell, John J., Valsecchi, Maria Grazia, la Marca, Giancarlo, Galimberti, Stefania, Auricchio, Alberto, Brunetti-Pierri, Nicola

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Asymptomatic critical hypoglycaemia: a dangerous presentation of glycogen storage disease type Ib in infancy von Bock, Dirk E, Rupar, Charles A, Prasad, Chitra

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Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening von Prasad, Chitra, Speechley, Kathy N, Dyack, Sarah, Rupar, Charles A, Chakraborty, Pranesh, Kronick, Jonathan B

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Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information—A pilot project von Prasad, Chitra, DiRaimo, Jennifer, Napier, Melanie, Goobie, Sharan, Potter, Murray, Chakraborty, Pranesh, Karaceper, Maria, Schulze, Andreas, Rupar, Charles A.

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Changes in diagnostic time, therapeutic options and clinical outcomes in patients with lysosomal storage disorders (LSD) in Southwestern Ontario over the past two decades von Ladha, Alysha, Rupar, Charles A., Prasad, Asuri N., Seabrook, Jamie A., Prasad, Chitra

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Metabolomics profiling of central nervous system injury von Dekaban, Gregory A, Rupar, Charles A, Brown, Arthur, Holmes, Jeffrey, Fraser, Douglas Dale, Doherty, Timothy, Stewart, Tanya Charyk, Shoemaker, J. Kevin, Menon, Ravi, Bartha, Robert, Daley, Mark, Fischer, Lisa

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Cationic Crown Ether Complexes of Germanium(II) von Rupar, Paul A, Bandyopadhyay, Rajoshree, Cooper, Benjamin F.T, Stinchcombe, Michael R, Ragogna, Paul J, Macdonald, Charles L.B, Baines, Kim M

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Rapid and Efficient Stable Gene Transfer to Mesenchymal Stromal Cells Using a Modified Foamy Virus Vector von Sweeney, Nathan Paul, Regan, Cathy, Liu, Jiahui, Galleu, Antonio, Dazzi, Francesco, Lindemann, Dirk, Rupar, Charles Anthony, McClure, Myra Olga

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Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple von Al Harthy, Talib, Colaiacovo, Samantha, Gratton, Robert J., Coughlin, Kevin, Siu, Victoria Mok, Prasad, Chitra, Rupar, Charles, Saleh, Maha

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Psychosocial impact on mothers receiving expanded newborn screening results von O'Connor, Kathleen, Jukes, Tara, Goobie, Sharan, DiRaimo, Jennifer, Moran, Greg, Potter, Beth Katherine, Chakraborty, Pranesh, Rupar, Charles Anthony, Gannavarapu, Srinitya, Prasad, Chitra

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Arylsulfatase A deficiency causes seminolipid accumulation and a lysosomal storage disorder in Sertoli cells von Xu, Hongbin, Kongmanas, Kessiri, Kadunganattil, Suraj, Smith, Charles E., Rupar, Tony, Goto-Inoue, Naoko, Hermo, Louis, Faull, Kym F., Tanphaichitr, Nongnuj

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A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin–angiotensin pathway, without renal tubular dysgenesis von Dilliott, Allison A., Wang, Jian, Brown, Emma, Singh, Gagandeep, Shkrum, Michael J., Clin, Madeleine, Rupar, Charles Anthony, Hegele, Robert A., Siu, Victoria Mok

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Two cases of carbonic anhydrase VA deficiency—An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome von Marwaha, Ashish, Ibrahim, Judy, Rice, Taylor, Hamwi, Nadia, Rupar, Charles Anthony, Cresswell, David, Prasad, Chitra, Schulze, Andreas

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Magnetic resonance imaging in the diagnosis of white matter signal abnormalities von Datar, Ravi, Prasad, Asuri Narayan, Tay, Keng Yeow, Rupar, Charles Anthony, Ohorodnyk, Pavlo, Miller, Michael, Prasad, Chitra

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Two novel strains of Bacillus thuringiensis toxic to coleopterans von RUPAR, M. J, DONOVAN, W. P, GENE GROAT, R, SLANEY, A. C, MATTISON, J. W, JOHNSON, T. B, CHARLES, J.-F, COMAO DUMANOIR, V, DE BARJAC, H

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Trends in Human Immunodeficiency Virus (HIV) Counseling, Testing, and Antiretroviral Treatment of HIV-Infected Women and Perinatal Transmission in North Carolina von Fiscus, Susan A., Adimora, Adaora A., Schoenbach, Victor J., McKinney, Ross, Lim, Wilma, Rupar, David, Kenny, Jean, Woods, Charles, Wilfert, Catherine, Johnson, Victoria A.

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Trends in interventions to reduce perinatal human immunodeficiency virus type 1 transmission in North Carolina von FISCUS, SUSAN A, ADIMORA, ADAORA A, FUNK, MICHELE L, SCHOENBACH, VICTOR J, TRISTRAM, DEBORAH, LIM, WILMA, MCKINNEY, ROSS, RUPAR, DAVID, WOODS, CHARLES, WILFERT, CATHERINE

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WEARABLE HEMOFILTRATION ARTIFICIAL KIDNEY von RUPAR, Charles Anthony, CAMPBELL, Gordon John, BARBEITO, Robert Gonzales, TREESH, Salem, LINDSAY, Robert McGregor, HUANG, Shih Han

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