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
TLDR
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.About:
This article is published in Molecular Genetics and Metabolism.The article was published on 2014-06-01 and is currently open access. It has received 204 citations till now. The article focuses on the topics: Diet therapy.read more
Citations
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The complete European guidelines on phenylketonuria: diagnosis and treatment
A.M.J. van Wegberg,Anita MacDonald,K. Ahring,Amaya Belanger-Quintana,Nenad Blau,Annet M. Bosch,Alessandro P. Burlina,Jaime Campistol,François Feillet,Maria Gizewska,Stephan C. J. Huijbregts,Shauna Kearney,Vincenzo Leuzzi,François Maillot,Ania C. Muntau,M. van Rijn,Friedrich K. Trefz,John H. Walter,F. J. van Spronsen +18 more
TL;DR: Although study designs and patient numbers are sub-optimal, many statements are convincing, important and relevant and knowledge gaps are identified which require further research in order to direct better care for the future.
Journal ArticleDOI
Genetics of Phenylketonuria: Then and Now.
TL;DR: A greater understanding of the relationships between individual gene variant, residual PAH activity, tetrahydrobiopterin (BH4) responsiveness, and the clinical PKU phenotype may increase the potential for individualized management of PKU in future.
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.
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The Department of Health and Human Services.
TL;DR: This letter is in response to your two Citizen Petitions, requesting that the Food and Drug Administration (FDA or the Agency) require a cancer warning on cosmetic talc products.
Physicians Desk Reference
TL;DR: In this paper, the authors present a list of manufacturers, product categories, and diagnostic product information, including name, product category, and identification of product categories and attributes, with a focus on medical applications.
Journal ArticleDOI
A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants.
Robert Guthrie,Ada Susi +1 more
TL;DR: A new method is described for rapid and economical screening of large numbers of hospital nursery infants for elevation in blood phenylalanine associated with phenylketonuria, and results indicate that a very low rate of "false-positives" will be encountered during screening of the 10,000 or more infants that may be necessary to detect a case of phenyl ketonuria.
Related Papers (5)
The complete European guidelines on phenylketonuria: diagnosis and treatment
A.M.J. van Wegberg,Anita MacDonald,K. Ahring,Amaya Belanger-Quintana,Nenad Blau,Annet M. Bosch,Alessandro P. Burlina,Jaime Campistol,François Feillet,Maria Gizewska,Stephan C. J. Huijbregts,Shauna Kearney,Vincenzo Leuzzi,François Maillot,Ania C. Muntau,M. van Rijn,Friedrich K. Trefz,John H. Walter,F. J. van Spronsen +18 more
A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants.
Robert Guthrie,Ada Susi +1 more