Rezultati - Feigenbaum, Annette

A child with an underrecognized form of developmental delay: a congenital disorder of glycosylation od Mahant, Sanjay, Feigenbaum, Annette

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Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia od Friedman, Jennifer, Feigenbaum, Annette, Chuang, Nathaniel, Silhavy, Jennifer, Gleeson, Joseph G.

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Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria od Li, Charles Q, Barshop, Bruce A, Feigenbaum, Annette, Khanna, Paritosh C

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Arginase I deficiency: Severe Infantile Presentation with hyperammonemia: more common than reported? od Jain-Ghai, Shailly, Nagamani, Sandesh C. Sreenath, Blaser, Susan, Siriwardena, Komudi, Feigenbaum, Annette

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Human sulfite oxidase R160Q: Identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme od Garrett, Robert M., Johnson, Jean L., Graf, Tyler N., Feigenbaum, Annette, Rajagopalan, K. V.

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A SIX-MONTH-OLD INFANT WITH LIVER STEATOSIS od Stormon, Michael O., Cutz, Ernest, Furuya, Katryn, Bedford, Melanie, Yerkes, Laura, Tolan, Dean R., Feigenbaum, Annette

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Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency od Owen, Mallory J., Lenberg, Jerica, Feigenbaum, Annette, Gold, Jeffrey, Chau, Kevin, Bezares-Orin, Zaira, Ding, Yan, Chowdhury, Shimul, Kingsmore, Stephen F.

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Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system od Kingsmore, Stephen F., Ramchandar, Nanda, James, Kiely, Niemi, Anna-Kaisa, Feigenbaum, Annette, Ding, Yan, Benson, Wendy, Hobbs, Charlotte, Nahas, Shareef, Chowdhury, Shimul, Dimmock, David

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Design and Implementation of the First Randomized Controlled Trial of Coenzyme Q(10) in Children with Primary Mitochondrial Diseases od Stacpoole, Peter W., deGrauw, Ton. J., Feigenbaum, Annette S., Hoppel, Charles, Kerr, Douglas S., McCandless, Shawn E., Miles, Michael V., Robinson, Brian H., Tang, Peter H.

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Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis od Waisbren, Susan, Burton, Barbara K., Feigenbaum, Annette, Konczal, Laura L., Lilienstein, Joshua, McCandless, Shawn E., Rowell, Richard, Sanchez-Valle, Amarilis, Whitehall, Kaleigh B., Longo, Nicola

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A Novel Syndrome Affecting Multiple Mitochondrial Functions, Located by Microcell-Mediated Transfer to Chromosome 2p14-2p13 od Seyda, Agnieszka, Newbold, Robert F., Hudson, Thomas J., Verner, Andrei, MacKay, Neviana, Winter, Susan, Feigenbaum, Annette, Malaney, Suzann, Gonzalez-Halphen, Diego, Cuthbert, Andrew P., Robinson, Brian H.

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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 od 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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A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency od Arnold, Georgianne L., VanHove, 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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The Role of Molecular Testing and Enzyme Analysis in the Management of Hypomorphic Citrullinemia od Dimmock, David P., Trapane, Pamela, Feigenbaum, Annette, Keegan, Catherine E., Cederbaum, Stephen, Gibson, James, Gambello, Michael J., Vaux, Keith, Ward, Patricia, Rice, Gregory M., Wolff, Jon A, O’Brien, William E., Fang, Ping

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Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework od Potter, Beth K., Chakraborty, Pranesh, Kronick, Jonathan B., Wilson, Kumanan, Coyle, Doug, Feigenbaum, Annette, Geraghty, Michael T., Karaceper, Maria D., Little, Julian, Mhanni, Aizeddin, Mitchell, John J., Siriwardena, Komudi, Wilson, Brenda J., Syrowatka, Ania

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Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment od Waters, Paula J., Kitzler, Thomas M., Feigenbaum, Annette, Geraghty, Michael T., Al-Dirbashi, Osama, Bherer, Patrick, Auray-Blais, Christiane, Gravel, Serge, McIntosh, Nathan, Siriwardena, Komudi, Trakadis, Yannis, Brunel-Guitton, Catherine, Al-Hertani, Walla

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A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome od 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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Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia od 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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An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe dise... od Kazi, Zoheb B., Desai, Ankit K., Troxler, R. Bradley, Kronn, David, Packman, Seymour, Sabbadini, Marta, Rizzo, William B., Scherer, Katalin, Abdul-Rahman, Omar, Tanpaiboon, Pranoot, Nampoothiri, Sheela, Gupta, Neerja, Feigenbaum, Annette, Niyazov, Dmitriy M., Langston, Sherry, Segel, Reeval, McVie-Wylie, Alison, Sung, Crystal, Joseph, Alexandra M., Richards, Susan, Kishnani, Priya S.

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Unique Aspects of Sequence Variant Interpretation for Inborn Errors of Metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene od Zastrow, Diane B., Baudet, Heather, Shen, Wei, Thomas, Amanda, Si, Yue, Weaver, Meredith A., Lager, Angela, Liu, Jixia, Mangels, Rachel, Dwight, Selina S., Wright, Matt W., Dobrowolski, Steven F., Eilbeck, Karen, Enns, Gregory M., Feigenbaum, Annette, Lichter-Konecki, Uta, Lyon, Elaine, Pasquali, Marzia, Watson, Michael, Blau, Nenad, Steiner, Robert D., Craigen, William J., Mao, Rong

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