Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes von Feigenbaum, Annette

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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society von Parikh, Sumit, Goldstein, Amy, Karaa, Amel, Koenig, Mary Kay, Anselm, Irina, Brunel-Guitton, Catherine, Christodoulou, John, Cohen, Bruce H, Dimmock, David, Enns, Gregory M, Falk, Marni J, Feigenbaum, Annette, Frye, Richard E, Ganesh, Jaya, Griesemer, David, Haas, Richard, Horvath, Rita, Korson, Mark, Kruer, Michael C, Mancuso, Michelangelo, McCormack, Shana, Raboisson, Marie Josee, Reimschisel, Tyler, Salvarinova, Ramona, Saneto, Russell P, Scaglia, Fernando, Shoffner, John, Stacpoole, Peter W, Sue, Carolyn M, Tarnopolsky, Mark, Van Karnebeek, Clara, Wolfe, Lynne A, Cunningham, Zarazuela Zolkipli, Rahman, Shamima, Chinnery, Patrick F

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A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome von Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd, Thiele, Holger, Nürnberg, Peter, Höhne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette, Hennekam, Raoul C.

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Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-... von Levy, Harvey L, Dr, Milanowski, Andrzej, MD, Chakrapani, Anupam, MD, Cleary, Maureen, MD, Lee, Philip, MD, Trefz, Friedrich K, MD, Whitley, Chester B, MD, Feillet, François, MD, Feigenbaum, Annette S, FRCPC, Bebchuk, Judith D, ScD, Christ-Schmidt, Heidi, MSE, Dorenbaum, Alex, MD

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Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency von Feigenbaum, Annette, Lamale-Smith, Leah, Weinstein, Lawrence

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P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a family von Parashar, Kanika, Wigby, Kristen, Feigenbaum, Annette, Del Campo, Miguel

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Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome von DeLong, Kathryn, Feigenbaum, Annette, Pollard, Laura, Lay, Andrew, Wood, Timothy

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IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria von Kranendijk, Martijn, Struys, Eduard A, van Schaftingen, Emile, Gibson, K. Michael, Kanhai, Warsha A, van der Knaap, Marjo S, Amiel, Jeanne, Buist, Neil R, Das, Anibh M, de Klerk, Johannis B, Feigenbaum, Annette S, Grange, Dorothy K, Hofstede, Floris C, Holme, Elisabeth, Kirk, Edwin P, Korman, Stanley H, Morava, Eva, Morris, Andrew, Smeitink, Jan, Sukhai, Rám N, Vallance, Hilary, Jakobs, Cornelis, Salomons, Gajja S

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MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation von Connolly, Barbara S., Feigenbaum, Annette S.J., Robinson, Brian H., Dipchand, Anne I., Simon, David K., Tarnopolsky, Mark A.

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Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy von Tise, Christina G., Morales, Jose Andres, Lee, Ariel S., Velez‐Bartolomei, Frances, Floyd, Brendan J., Levy, Rebecca J., Cusmano‐Ozog, Kristina P., Feigenbaum, Annette S., Ruzhnikov, Maura R. Z., Lee, Chung U., Enns, Gregory M.

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A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency von Arnold, Georgianne L., Van Hove, Johan, Freedenberg, Debra, Strauss, Arnold, Longo, Nicola, Burton, Barbara, Garganta, Cheryl, Ficicioglu, Can, Cederbaum, Stephen, Harding, Cary, Boles, Richard G., Matern, Dietrich, Chakraborty, Pranesh, Feigenbaum, Annette

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Rolandic Mitochondrial Encephalomyelopathy and MT-ND3 Mutations von Werner, Klaus G.E., MD, PhD, Morel, Chantal F., MD, Kirton, Adam, MD, Benseler, Susanne M., MD, Shoffner, John M., MD, Addis, Jane B.L., BSc, Robinson, Brian H., PhD, Burrowes, Delilah M., MD, Blaser, Susan I., MD, Epstein, Leon G., MD, Feigenbaum, Annette S.J., MD

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P687: Variant classification discrepancies in the ACADVL gene von Dickson, Alexa, Flowers, May, Miller, Marcus, Spector, Elaine, Enns, Gregory, Baudet, Heather, Pasquali, Marzia, Racacho, Lemuel, Sadre-Bazzaz, Kianoush, Wen, Ting, Fogarty, Melissa, Fernandez, Raquel, Weaver, Meredith, Feigenbaum, Annette, Graham, Brett, Mao, Rong

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P007: PP4 criteria specifications for proximal urea cycle disorders von Simpson, Kara, Mew, Nicholas Ah, Caldovic, Ljubica, Feigenbaum, Annette, Fernandez, Raquel, Groopman, Emily, Gropman, Andrea, Kudalkar, Emily, Lichter-Konecki, Uta, Kyriss, McKenna, Spector, Elaine, Weaver, Meredith, Warrier, Manya, Zastrow, Diane, Thomas-Wilson, Amanda

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Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia von Huang, Yue, Sharma, Rajesh, Feigenbaum, Annette, Lee, Chung, Sahai, Inderneel, Sanchez Russo, Rossana, Neira, Juanita, Brooks, Susan Sklower, Jackson, Kelly E., Wong, Derek, Cederbaum, Stephen, Lacbawan, Felicitas L., Rowland, Charles M., Tanpaiboon, Pranoot, Salazar, Denise

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Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada von Karaceper, Maria D, Khangura, Sara D, Wilson, Kumanan, Coyle, Doug, Brownell, Marni, Davies, Christine, Dodds, Linda, Feigenbaum, Annette, Fell, Deshayne B, Grosse, Scott D, Guttmann, Astrid, Hawken, Steven, Hayeems, Robin Z, Kronick, Jonathan B, Laberge, Anne-Marie, Little, Julian, Mhanni, Aizeddin, Mitchell, John J, Nakhla, Meranda, Potter, Murray, Prasad, Chitra, Rockman-Greenberg, Cheryl, Sparkes, Rebecca, Stockler, Sylvia, Ueda, Keiko, Vallance, Hilary, Wilson, Brenda J, Chakraborty, Pranesh, Potter, Beth K

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P584: Dual diagnosis of maple syrup urine disease 1B and 6q14.1 deletion in an individual with neurodevelopmental and metabolic phenotypes von Wang, Xin (David), Kirsten, Kelly, Wright, Meredith, Kim-McManus, Olivia, Ceulemans, Sophia, Feigenbaum, Annette, Tsai, Hannah, Lenberg, Jerica, Gray, Paula, Shinde, Deepali, Guidugli, Lucia, Tokita, Mari

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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence von Schwahn, Bernd C., Scheffner, Thomas, Stepman, Hedwig, Verloo, Peter, Das, Anibh M, Fletcher, Janice, Blom, Henk J, Benoist, Jean‐Francois, Barshop, Bruce A., Barea, Jaime J., Feigenbaum, Annette

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Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium von Seminara, Jennifer, Tuchman, Mendel, Krivitzky, Lauren, Krischer, Jeffrey, Lee, Hye-Seung, LeMons, Cynthia, Baumgartner, Matthias, Cederbaum, Stephen, Diaz, George A., Feigenbaum, Annette, Gallagher, Renata C., Harding, Cary O., Kerr, Douglas S., Lanpher, Brendan, Lee, Brendan, Lichter-Konecki, Uta, McCandless, Shawn E., Merritt, J. Lawrence, Oster-Granite, Mary Lou, Seashore, Margretta R., Stricker, Tamar, Summar, Marshall, Waisbren, Susan, Yudkoff, Marc, Batshaw, Mark L.

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Mitochondrial DNA depletion and dGK gene mutations von Salviati, Leonardo, Sacconi, Sabrina, Mancuso, Michelangelo, Otaegui, David, Camaño, Pilar, Marina, Alberto, Rabinowitz, Simon, Shiffman, Rebecca, Thompson, Karen, Wilson, Claire M., Feigenbaum, Annette, Naini, Ali B., Hirano, Michio, Bonilla, Eduardo, DiMauro, Salvatore, Vu, Tuan H.

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