Výsledky vyhledávání - Feigenbaum, Annette

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  1. 1
    A child with an underrecognized form of developmental delay: a congenital disorder of glycosylation

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

    Vydáno 2006
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  2. 2
    Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia

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

    Vydáno 2017
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  3. 3
    Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria

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

    Vydáno 2018
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  4. 4
    Arginase I deficiency: Severe Infantile Presentation with hyperammonemia: more common than reported?

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

    Vydáno 2011
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  5. 5
    Human sulfite oxidase R160Q: Identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme

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

    Vydáno 1998
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  6. 6
    A SIX-MONTH-OLD INFANT WITH LIVER STEATOSIS

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

    Vydáno 2004
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  7. 7
    Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency

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

    Vydáno 2021
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  8. 8
    Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system

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

    Vydáno 2020
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  9. 9
    Design and Implementation of the First Randomized Controlled Trial of Coenzyme Q(10) in Children with Primary Mitochondrial Diseases

    Design and Implementation of the First Randomized Controlled Trial of Coenzyme Q(10) in Children with Primary Mitochondrial Diseases Autor 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.

    Vydáno 2012
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  10. 10
    Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis

    Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis Autor 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

    Vydáno 2021
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  11. 11
    A Novel Syndrome Affecting Multiple Mitochondrial Functions, Located by Microcell-Mediated Transfer to Chromosome 2p14-2p13

    A Novel Syndrome Affecting Multiple Mitochondrial Functions, Located by Microcell-Mediated Transfer to Chromosome 2p14-2p13 Autor 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.

    Vydáno 2001
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  12. 12
    Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

    Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence Autor 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

    Vydáno 2020
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  13. 13
    A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

    A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency Autor 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

    Vydáno 2009
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  14. 14
    The Role of Molecular Testing and Enzyme Analysis in the Management of Hypomorphic Citrullinemia

    The Role of Molecular Testing and Enzyme Analysis in the Management of Hypomorphic Citrullinemia Autor 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

    Vydáno 2008
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  15. 15
    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

    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 Autor 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

    Vydáno 2013
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  16. 16
    Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment

    Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment Autor 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

    Vydáno 2017
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  17. 17
    A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

    A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome Autor 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.

    Vydáno 2015
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  18. 18
    Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

    Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia Autor 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

    Vydáno 2021
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  19. 19
    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 disease

    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... Autor 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.

    Vydáno 2018
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  20. 20
    Unique Aspects of Sequence Variant Interpretation for Inborn Errors of Metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

    Unique Aspects of Sequence Variant Interpretation for Inborn Errors of Metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene Autor 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

    Vydáno 2018
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