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Your search keyword '"Lichter-Konecki, Uta"' showing total 27 results
Start Over Author "Lichter-Konecki, Uta" Journal molecular genetics and metabolism
27 results on '"Lichter-Konecki, Uta"'

3. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials

Author

Nagamani, Sandesh CS, Diaz, George A, Rhead, William, Berry, Susan A, Le Mons, Cynthia, Lichter-Konecki, Uta, Bartley, James, Feigenbaum, Annette, Schulze, Andreas, Longo, Nicola, Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O, Korson, Mark S, McCandless, Shawn E, Smith, Wendy, Vockley, Jerry, Kronn, David, Zori, Robert, Cederbaum, Stephen, Merritt, J Lawrence, Wong, Derek, Coakley, Dion F, Scharschmidt, Bruce F, Dickinson, Klara, Marino, Miguel, Lee, Brendan H, and Mokhtarani, Masoud

Subjects
Chronic Pain, Pain Research, Clinical Research, Neurosciences, Clinical Trials and Supportive Activities, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Adolescent, Adult, Aged, Ammonia, Antineoplastic Agents, Child, Child, Preschool, Female, Glycerol, Humans, Infant, Male, Middle Aged, Phenylbutyrates, Quality of Life, Self Report, Surveys and Questionnaires, Urea Cycle Disorders, Inborn, Young Adult, Treatment-related symptoms, Glycerol phenylbutyrate, Sodium phenylbutyrate, Patient-reported outcomes, Health-related quality of life, Clinical Sciences, Genetics & Heredity
Abstract

BackgroundHealth care outcomes have been increasingly assessed through health-related quality of life (HRQoL) measures. While the introduction of nitrogen-scavenging medications has improved survival in patients with urea cycle disorders (UCDs), they are often associated with side effects that may affect patient compliance and outcomes.MethodsSymptoms commonly associated with nitrogen-scavenging medications were evaluated in 100 adult and pediatric participants using a non-validated UCD-specific questionnaire. Patients or their caregivers responded to a pre-defined list of symptoms known to be associated with the use of these medications. Responses were collected at baseline (while patients were receiving sodium phenylbutyrate [NaPBA]) and during treatment with glycerol phenylbutyrate (GPB).ResultsAfter 3 months of GPB dosing, there were significant reductions in the proportion of patients with treatment-associated symptoms (69% vs. 46%; p

Published
2015

4. CURATION OF SEQUENCE VARIANTS IN UREA CYCLE GENES

Author

Simpson, Kara, primary, Mew, Nicholas Ah., additional, Caldovic, Ljubica, additional, Craigen, William, additional, Feigenbaum, Annette, additional, Fernandez, Raquel, additional, Groopman, Emily, additional, Gropman, Andrea, additional, Kudalker, Emily, additional, Kyriss, McKenna, additional, Lichter-Konecki, Uta, additional, Nagamani, Sandesh, additional, Spector, Elaine, additional, Thomas-Wilson, Amanda, additional, Warrier, Manya, additional, Weaver, Meredith, additional, and Zastrow, Diane, additional

Published
2023
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5. Refining ClinGen loss of function variant recommendations for the phenylalanine hydroxylase (PAH) gene: the PAH variant curation expert panel’s experience

Author

Groopman, Emily, primary, Weaver, Meredith, additional, Zastrow, Diane, additional, Enns, Gregory, additional, Feigenbaum, Annette, additional, Lichter-Konecki, Uta, additional, Lyon, Elaine, additional, Pasquali, Marzia, additional, Caldovic, Ljuba, additional, Ross, Justyne, additional, and Craigen, William, additional

Published
2021
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6. Opportunities for fellowship education: the first year of the Medical Biochemical Genetics Clinical Core Seminar Series

Author

Baker, Peter, primary, Ables, Holly, additional, Bedoyan, Jirair, additional, Feldman, Gerald, additional, Keegan, Catherine, additional, Lichter-Konecki, Uta, additional, Longo, Nicola, additional, McDonald, Marie, additional, Merideth, Melissa, additional, Venditti, Charles, additional, Merritt, Lawrence, additional, Shinawi, Marwan, additional, Sutton, V. Reid, additional, Vernon, Hilary, additional, Wilcox, William, additional, El-Gharbawy, Areeg, additional, Koeller, David, additional, Steiner, Robert, additional, Barshop, Bruce, additional, Coughlin, Curtis, additional, Kochhar, Aaina, additional, Van Hove, Johan, additional, Thomas, Janet, additional, Larson, Austin, additional, and McCandless, Shawn, additional

Published
2021
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7. Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders

Author

Longo, Nicola, primary, Diaz, George A., additional, Lichter-Konecki, Uta, additional, Schulze, Andreas, additional, Inbar-Feigenberg, Michal, additional, Conway, Robert L., additional, Bannick, Allison A., additional, McCandless, Shawn E., additional, Zori, Roberto, additional, Hainline, Bryan, additional, Ah Mew, Nicholas, additional, Canavan, Colleen, additional, Vescio, Thomas, additional, Kok, Teresa, additional, Porter, Marty H., additional, and Berry, Susan A., additional

Published
2021
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9. Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients

Author

Diaz, George A., primary, Schulze, Andreas, additional, Longo, Nicola, additional, Rhead, William, additional, Feigenbaum, Annette, additional, Wong, Derek, additional, Merritt, J. Lawrence, additional, Berquist, William, additional, Gallagher, Renata C., additional, Bartholomew, Dennis, additional, McCandless, Shawn E., additional, Smith, Wendy E., additional, Harding, Cary O., additional, Zori, Roberto, additional, Lichter-Konecki, Uta, additional, Vockley, Jerry, additional, Canavan, Colleen, additional, Vescio, Thomas, additional, Holt, Robert J., additional, and Berry, Susan A., additional

Published
2019
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10. Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders

Author

Berry, Susan A., primary, Vockley, Jerry, additional, Vinks, Alexander A., additional, Dong, Min, additional, Diaz, George A., additional, McCandless, Shawn E., additional, Smith, Wendy E., additional, Harding, Cary O., additional, Zori, Roberto, additional, Ficicioglu, Can, additional, Lichter-Konecki, Uta, additional, Perdok, Renee, additional, Robinson, Beth, additional, Holt, Robert J., additional, and Longo, Nicola, additional

Published
2018
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11. Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2 months to 2 years

Author

Berry, Susan A., primary, Longo, Nicola, additional, Diaz, George A., additional, McCandless, Shawn E., additional, Smith, Wendy E., additional, Harding, Cary O., additional, Zori, Roberto, additional, Ficicioglu, Can, additional, Lichter-Konecki, Uta, additional, Robinson, Beth, additional, and Vockley, Jerry, additional

Published
2017
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12. The Pennsylvania newborn screening experience for Pompe disease

Author

Henderson, Nadene D., primary, Ficicioglu, Can, additional, Ortiz, Damara, additional, Ahrens-Nicklas, Rebecca, additional, Gordon, Patricia, additional, Ieradi-Curto, Lynne, additional, Cuddapah, Sanmati, additional, El-Gharbawy, Areeg, additional, Lichter-Konecki, Uta, additional, Sebastien, Jessica, additional, Byers, Stephanie, additional, Dobrowolski, Steven, additional, Higa, Leigh Ann, additional, Vockley, Gerard, additional, and Culley, Lani, additional

Published
2017
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14. Phenylketonuria Scientific Review Conference: State of the science and future research needs

Author

Camp, Kathryn M., primary, Parisi, Melissa A., additional, Acosta, Phyllis B., additional, Berry, Gerard T., additional, Bilder, Deborah A., additional, Blau, Nenad, additional, Bodamer, Olaf A., additional, Brosco, Jeffrey P., additional, Brown, Christine S., additional, Burlina, Alberto B., additional, Burton, Barbara K., additional, Chang, Christine S., additional, Coates, Paul M., additional, Cunningham, Amy C., additional, Dobrowolski, Steven F., additional, Ferguson, John H., additional, Franklin, Thomas D., additional, Frazier, Dianne M., additional, Grange, Dorothy K., additional, Greene, Carol L., additional, Groft, Stephen C., additional, Harding, Cary O., additional, Howell, R. Rodney, additional, Huntington, Kathleen L., additional, Hyatt-Knorr, Henrietta D., additional, Jevaji, Indira P., additional, Levy, Harvey L., additional, Lichter-Konecki, Uta, additional, Lindegren, Mary Lou, additional, Lloyd-Puryear, Michele A., additional, Matalon, Kimberlee, additional, MacDonald, Anita, additional, McPheeters, Melissa L., additional, Mitchell, John J., additional, Mofidi, Shideh, additional, Moseley, Kathryn D., additional, Mueller, Christine M., additional, Mulberg, Andrew E., additional, Nerurkar, Lata S., additional, Ogata, Beth N., additional, Pariser, Anne R., additional, Prasad, Suyash, additional, Pridjian, Gabriella, additional, Rasmussen, Sonja A., additional, Reddy, Uma M., additional, Rohr, Frances J., additional, Singh, Rani H., additional, Sirrs, Sandra M., additional, Stremer, Stephanie E., additional, Tagle, Danilo A., additional, Thompson, Susan M., additional, Urv, Tiina K., additional, Utz, Jeanine R., additional, van Spronsen, Francjan, additional, Vockley, Jerry, additional, Waisbren, Susan E., additional, Weglicki, Linda S., additional, White, Desirée A., additional, Whitley, Chester B., additional, Wilfond, Benjamin S., additional, Yannicelli, Steven, additional, and Young, Justin M., additional

Published
2014
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15. Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes

Author

Berry, Susan A., primary, Lichter-Konecki, Uta, additional, Diaz, George A., additional, McCandless, Shawn E., additional, Rhead, William, additional, Smith, Wendy, additional, LeMons, Cynthia, additional, Nagamani, Sandesh C.S., additional, Coakley, Dion F., additional, Mokhtarani, Masoud, additional, Scharschmidt, Bruce F., additional, and Lee, Brendan, additional

Published
2014
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17. Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening

Author

Arnold, Georgianne L., primary, Salazar, Denise, additional, Neidich, Julie A., additional, Suwannarat, Pim, additional, Graham, Brett H., additional, Lichter-Konecki, Uta, additional, Bosch, Annet M., additional, Cusmano-Ozog, Kristina, additional, Enns, Greg, additional, Wright, Erica L., additional, Lanpher, Brendan C., additional, Owen, Natalie N., additional, Lipson, Mark H., additional, Cerone, Roberto, additional, Levy, Paul, additional, Wong, Lee-Jun C., additional, and Dezsofi, Antal, additional

Published
2012
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18. Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate

Author

Lichter-Konecki, Uta, primary, Diaz, G.A., additional, Merritt, J.L., additional, Feigenbaum, A., additional, Jomphe, C., additional, Marier, J.F., additional, Beliveau, M., additional, Mauney, J., additional, Dickinson, K., additional, Martinez, A., additional, Mokhtarani, M., additional, Scharschmidt, B., additional, and Rhead, W., additional

Published
2011
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20. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

Author

Seminara, Jennifer, primary, Tuchman, Mendel, additional, Krivitzky, Lauren, additional, Krischer, Jeffrey, additional, Lee, Hye-Seung, additional, LeMons, Cynthia, additional, Baumgartner, Matthias, additional, Cederbaum, Stephen, additional, Diaz, George A., additional, Feigenbaum, Annette, additional, Gallagher, Renata C., additional, Harding, Cary O., additional, Kerr, Douglas S., additional, Lanpher, Brendan, additional, Lee, Brendan, additional, Lichter-Konecki, Uta, additional, McCandless, Shawn E., additional, Merritt, J. Lawrence, additional, Oster-Granite, Mary Lou, additional, Seashore, Margretta R., additional, Stricker, Tamar, additional, Summar, Marshall, additional, Waisbren, Susan, additional, Yudkoff, Marc, additional, and Batshaw, Mark L., additional

Published
2010
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21. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH

Author

Shchelochkov, Oleg A., primary, Li, Fang-Yuan, additional, Geraghty, Michael T., additional, Gallagher, Renata C., additional, Van Hove, Johan L., additional, Lichter-Konecki, Uta, additional, Fernhoff, Paul M., additional, Copeland, Sara, additional, Reimschisel, Tyler, additional, Cederbaum, Stephen, additional, Lee, Brendan, additional, Chinault, A. Craig, additional, and Wong, Lee-Jun, additional

Published
2009
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22. Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases

Author

Deardorff, Matthew A., primary, Gaddipati, Himabindu, additional, Kaplan, Paige, additional, Sanchez-Lara, Pedro A., additional, Sondheimer, Neal, additional, Spinner, Nancy B., additional, Hakonarson, Hakon, additional, Ficicioglu, Can, additional, Ganesh, Jaya, additional, Markello, Thomas, additional, Loechelt, Brett, additional, Zand, Dina J., additional, Yudkoff, Marc, additional, and Lichter-Konecki, Uta, additional

Published
2008
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23. Cross-sectional multicenter study of patients with urea cycle disorders in the United States

Author

Tuchman, Mendel, primary, Lee, Brendan, additional, Lichter-Konecki, Uta, additional, Summar, Marshall L., additional, Yudkoff, Marc, additional, Cederbaum, Stephen D., additional, Kerr, Douglas S., additional, Diaz, George A., additional, Seashore, Margaretta R., additional, Lee, Hye-Seung, additional, McCarter, Robert J., additional, Krischer, Jeffrey P., additional, and Batshaw, Mark L., additional

Published
2008
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25. The Correlation of Genotype and Phenotype in Portuguese Hyperphenylalaninemic Patients

Author

Rivera, Isabel, primary, Cabral, Aguinaldo, additional, Almeida, Manuela, additional, Leandro, Paula, additional, Carmona, Carla, additional, Eusébio, Filomena, additional, Tasso, Teresa, additional, Vilarinho, Laura, additional, Martins, Esmeralda, additional, Lechner, Maria Celeste, additional, de Almeida, Isabel Tavares, additional, Konecki, David S., additional, and Lichter-Konecki, Uta, additional

Published
2000
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27. Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.

Author

Berry SA, Longo N, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Robinson B, and Vockley J

Subjects
Child, Preschool, Cough, Disease Management, Drug-Related Side Effects and Adverse Reactions, Female, Fever, Glutamine drug effects, Glycerol adverse effects, Glycerol blood, Glycerol therapeutic use, Glycerol toxicity, Humans, Infant, Male, Neutropenia, Phenylbutyrates blood, Phenylbutyrates toxicity, Prospective Studies, Retrospective Studies, Ammonia metabolism, Glutamine metabolism, Glycerol analogs & derivatives, Phenylbutyrates adverse effects, Phenylbutyrates therapeutic use, Urea Cycle Disorders, Inborn drug therapy
Abstract

Introduction: Glycerol phenylbutyrate (GPB) is approved in the US for the management of patients 2months of age and older with urea cycle disorders (UCDs) that cannot be managed with protein restriction and/or amino acid supplementation alone. Limited data exist on the use of nitrogen conjugation agents in very young patients., Methods: Seventeen patients (15 previously on other nitrogen scavengers) with all types of UCDs aged 2months to 2years were switched to, or started, GPB. Retrospective data up to 12months pre-switch and prospective data during initiation of therapy were used as baseline measures. The primary efficacy endpoint of the integrated analysis was the successful transition to GPB with controlled ammonia (<100μmol/L and no clinical symptoms). Secondary endpoints included glutamine and levels of other amino acids. Safety endpoints included adverse events, hyperammonemic crises (HACs), and growth and development., Results: 82% and 53% of patients completed 3 and 6months of therapy, respectively (mean 8.85months, range 6days-18.4months). Patients transitioned to GPB maintained excellent control of ammonia and glutamine levels. There were 36 HACs in 11 patients before GPB and 11 in 7 patients while on GPB, with a reduction from 2.98 to 0.88 episodes per year. Adverse events occurring in at least 10% of patients while on GPB were neutropenia, vomiting, diarrhea, pyrexia, hypophagia, cough, nasal congestion, rhinorrhea, rash/papule., Conclusion: GPB was safe and effective in UCD patients aged 2months to 2years. GPB use was associated with good short- and long-term control of ammonia and glutamine levels, and the annualized frequency of hyperammonemic crises was lower during the study than before the study. There was no evidence for any previously unknown toxicity of GPB., (Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2017
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