Resultados de procura - Feigenbaum, Annette

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

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

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Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria por 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? por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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... por 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 por 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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