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Uta Lichter-Konecki
Researcher at Boston Children's Hospital
Publications - 67
Citations - 2502
Uta Lichter-Konecki is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Glycerol phenylbutyrate & Urea cycle disorder. The author has an hindex of 26, co-authored 63 publications receiving 2016 citations. Previous affiliations of Uta Lichter-Konecki include Drexel University & Columbia University.
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Journal ArticleDOI
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Kathryn M. Camp,Melissa A. Parisi,Phyllis B. Acosta,Gerard T. Berry,Deborah A. Bilder,Nenad Blau,Nenad Blau,Olaf Bodamer,Jeffrey P. Brosco,Christine Brown,Alberto Burlina,Barbara K. Burton,Christine Chang,Paul M. Coates,Amy Cunningham,Steven F. Dobrowolski,John H. Ferguson,Thomas D. Franklin,Dianne M. Frazier,Dorothy K. Grange,Carol L. Greene,Stephen C. Groft,Cary O. Harding,R. Rodney Howell,Kathleen Huntington,Henrietta D. Hyatt-Knorr,Indira Jevaji,Harvey L. Levy,Uta Lichter-Konecki,Mary Lou Lindegren,Michele A. Lloyd-Puryear,Kimberlee Michals Matalon,Anita MacDonald,Melissa L McPheeters,John J. Mitchell,Shideh Mofidi,Kathryn D. Moseley,Christine M. Mueller,Andrew E. Mulberg,Lata S. Nerurkar,Beth N. Ogata,Anne R. Pariser,Suyash Prasad,Gabriella Pridjian,Sonja A. Rasmussen,Uma M. Reddy,Frances Rohr,Rani H. Singh,Sandra Sirrs,Stephanie E. Stremer,Danilo A. Tagle,Susan Thompson,Tiina K. Urv,Jeanine Utz,Francjan J. van Spronsen,Jerry Vockley,Susan E. Waisbren,Linda S. Weglicki,Desirée A. White,Chester B. Whitley,Benjamin S. Wilfond,Steven Yannicelli,Justin M. Young +62 more
TL;DR: A coordinated approach to PKU treatment improves long-term outcomes for those with PKU and facilitates the conduct of research to improve diagnosis and treatment, and there are significant gaps in predicting response to treatment.
Journal ArticleDOI
Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
Mendel Tuchman,Brendan Lee,Uta Lichter-Konecki,Marshall L. Summar,Marc Yudkoff,Stephen D. Cederbaum,Douglas S. Kerr,George A. Diaz,Margaretta R. Seashore,Hye-Seung Lee,Robert McCarter,Jeffrey P. Krischer,Mark L. Batshaw +12 more
TL;DR: A cross-sectional investigation to determine clinical and laboratory characteristics of patients with inherited urea cycle disorders in the United States found plasma glutamine levels were higher in proximal UCD and in neonatal type disease.
Journal ArticleDOI
Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.
TL;DR: Results of the workshop demonstrate that following newborn screening for phenylketonuria (PKU), using tandem mass-spectrometry, every newborn with even slightly elevated blood phenylalanine (Phe) levels needs to be screened for BH4 deficiency.
Journal ArticleDOI
The Genetic Landscape and Epidemiology of Phenylketonuria
Alicia Hillert,Yair Anikster,Amaya Belanger-Quintana,Alberto Burlina,Barbara K. Burton,Carla Carducci,Ana Chiesa,John Christodoulou,Maja Đorđević,Lourdes R. Desviat,Aviva Eliyahu,Roeland A F Evers,Lena Fajkusova,François Feillet,Pedro E. Bonfim-Freitas,Maria Gizewska,Polina Gundorova,Daniela Karall,Katya Kneller,Sergey I. Kutsev,Vincenzo Leuzzi,Harvey L. Levy,Uta Lichter-Konecki,Ania C. Muntau,Farès Namour,Mariusz Ołtarzewski,Andrea Paras,Belén Pérez,Emil Polak,Alexander V. Polyakov,Francesco Porta,Marianne Rohrbach,Sabine Scholl-Bürgi,Norma Specola,Maja Stojiljkovic,Nan Shen,Luiz Carlos Santana da Silva,Anastasia Skouma,Francjan J. van Spronsen,Vera Stoppioni,Beat Thöny,Friedrich K. Trefz,Jerry Vockley,Youngguo Yu,Johannes Zschocke,Georg F. Hoffmann,Sven F. Garbade,Nenad Blau,Nenad Blau +48 more
TL;DR: This study shows that large genotype databases enable accurate phenotype prediction, allowing appropriate targeting of therapies to optimize clinical outcome, and suggests a gradient in genotype and phenotype distribution exists across Europe, from classic PKU in the east to mild PK U in the southwest and mild hyperphenylalaninemia in the south.
Journal ArticleDOI
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.
George A. Diaz,Lauren Krivitzky,Masoud Mokhtarani,William J. Rhead,James Bartley,Annette Feigenbaum,Nicola Longo,William E. Berquist,Susan A. Berry,Renata C. Gallagher,Uta Lichter-Konecki,Dennis Bartholomew,Cary O. Harding,Stephen D. Cederbaum,Shawn E. McCandless,Wendy E. Smith,Gerald Vockley,Stephen A. Bart,Mark S. Korson,David Kronn,Roberto T. Zori,J. Lawrence Merritt,Sandesh C.S. Nagamani,Joseph Mauney,Cynthia LeMons,Klara Dickinson,T. Moors,Dion F. Coakley,Bruce F. Scharschmidt,Brendan Lee +29 more
TL;DR: During 12 months of open‐label glycerol phenylbutyrate treatment, average ammonia was normal in adult and pediatric patients and executive function among pediatric patients, including behavioral regulation, goal setting, planning, and self‐monitoring, was significantly improved.