Results 171 to 180 of about 538,734 (195)

PHENYLALANINE HYDROXYLASE DEFICIENCY IN THE PERIPHERAL LYMPHOCYTES FROM PHENYLKETONURIA

The Journal of Dermatology, 1977
ABSTRACTA radiograph of the incorporation of 3H‐phenylalanine and 3H‐tyrosine into cultured lymphocytes in a phenylketonuria patient indicates phenylalanine hydroxylase deficiency in the peripheral lymphocytes.Cultured lymphocytes from the patient showed much less uptake of 3H‐phenylalanine and a slightly higher incorporation of 3H‐tyrosine than the ...
T, Yoshii, K, Toda, T, Kobori
openaire   +2 more sources

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.

Clinical genetics, 2016
We describe the genotypes of the complete cohort, from 1967 to 2014, of phenylketonuria (PKU) patients in Denmark, in total 376 patients. A total of 752 independent alleles were investigated. Mutations were identified on 744 PKU alleles (98.9%). In total, 82 different mutations were present in the cohort.
Bayat, A., Yasmeen, S., Lund, A., Nielsen, J.B., Møller, Lisbeth Birk   +4 more
openaire   +2 more sources

Dopamine precursors and brain function in phenylalanine hydroxylase deficiency

Acta Paediatrica, 1994
Phenylalanine and tyrosine constitute the two initial steps in the biosynthesis of dopamine, which, in its turn, is the metabolic precursor of noradrenaline and adrenaline. The extracellular phenylalanine concentration influences brain function in phenylalanine deficiency (PHD) by decreased dopamine synthesis.
openaire   +2 more sources

The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Molecular Genetics and Metabolism, 2004
About two-thirds of all mild phenylketonuria (PKU) patients are tetrahydrobiopterin (BH4)-responsive and thus can be potentially treated with BH4 instead of a low-phenylalanine diet. Although there has been an increase in the amount of information relating to the diagnosis and treatment of this new variant of PKU, very little is know about the ...
Blau N, Erlandsen H
openaire   +3 more sources

The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency.

Biochemical and molecular medicine, 1997
Seventy-two adults with phenylketonuria were evaluated to investigate the genotypic relationship to phenotype. Patient data were collected by chart review and medical follow-up as well as current psychological evaluation. Nineteen diagnosed neonatally had remained on a phenylalanine-restricted diet all their lives, whereas 34 who were also diagnosed on
R, Koch, K, Fishler, C, Azen, P, Guldberg, F, Güttler   +4 more
openaire   +1 more source

Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency

Journal of Human Genetics, 2018
Shigeo, Kure, Haruo, Shintaku
openaire   +2 more sources

Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2023
April D Adams, Judith Hobert, Paul G Rothberg   +2 more
exaly  

Phenylalanine Hydroxylase Deficiency

2009
Markus Braun-Falco, Henry J. Mankin, Sharon L. Wenger, Markus Braun-Falco, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber, Richard Lorenz, Guido Adler, David C. Whitcomb, Dhiraj Yadav, Johannes Bode, Martin Wabitsch, Klaus-Michael Debatin, Pamela Fischer Posovzsky, Akmal Hassan, Mosaad Megahed, Tord M. Lundgren, Markus Pfister, Hans-Peter Zenner, Rossana Berardi, Chiara Pierantoni, Mario Scartozzi, Stefano Cascinu, Geoffrey N. Hendy, Johannes Schwarz, Alexander Storch, John-John B. Schnog, Victor E. A. Gerdes, Susanne A. Schneider, Kailash P. Bhatia, Adriana C. Gittenberger-de Groot, Regina Bökenkamp, Marco C. DeRuiter, Alexander K. C. Leung, Andrew L. Wong, Undine E. Lang, Alexander K. C. Leung, Alexander K. C. Leung, Muammer Seyhan, Silke Hofmann, Leena Bruckner-Tuderman, Silke Hofmann, Leena Bruckner-Tuderman, Silke Hofmann, Leena Bruckner-Tuderman, Peter Kopp, Douglas Forrest, Emine Dibek Misirlioğlu, Nursel Alpan, Mark Oette, Massimo Imazio, Kavitha M. Chinnaiyan, Laxmi S. Mehta, Mushtaq A. Bhat, Javeed I. Bhat, Gerald Stöber, André Reis, Jan Rémi, Soheyl Noachtar, Karin Jurkat-Rott, Frank Lehmann-Horn, Marinella Holzhausen, Nathalie Vergnolle, Martin Schillinger, Hans-Jürgen Gdynia, Albert C. Ludolph, Thomas Namdar, Claus Ferdinand Eisenberger, Wolfram Trudo Knoefel, Pere Ginés, Mónica Guevara, Antonio L. Cuesta-Muñoz, Henk Eijer, Markus Böhm, Thomas A. Luger, Flemming Güttler, Per Guldberg, Richard Koch, Kathryn Moseley, Graeme Eisenhofer, Karel Pacak, James V. Leonard, Jaak Jaeken, Michael A. Becker, Ulrich Stephani, Kendall S. Frazier, Markus Böhm, Thomas A. Luger, Alexander K. C. Leung, Reginald S. Sauve, Verena Matejas, Martin Zenker, Alexander K. C. Leung, Alexander K. C. Leung, William Lane M. Robson, Stefan Beissert, Alexander K. C. Leung, William Lane M. Robson, Tom Y. Woo, Alexander K. C. Leung, Hugo Ten Cate, Richard W. Light, Patricia T. Bozza, Jorge I. Salluh, Michael A. Jantz, Sergio L. Vargas, Rade Tomic, Jesse Roman, Abdullah F. Mobeireek, Mohammad Khalid, Harrys A. Torres, Roy F. Chemaly, Rade Tomic, Jesse Roman, Richard W. Light, Angela Dispenzieri, Sabine Krause, Hanns Lochmüller, Julia Weihrauch, Thomas Krieg, Wolfgang Kühn, Gerd Walz, Georg H. Merker, Ralf Kubitz, Dieter Häussinger, John-John B. Schnog, Victor E. A. Gerdes, Giovanna Musco, Guido Stoll, Klaus V. Toyka, Alexander K. C. Leung, Alexander K. C. Leung, William Lane M. Robson, Markus Böhm, Thomas A. Luger, Elena Pischik, Raili Kauppinen, Jorge Frank, Thomas Schwarz, Manish Thapar, Herbert. L. Bonkovsky, Jeffrey C. Wagner, A. Gordon Smith, Maria Mela, Ulrich Thalheimer, Dimitrios Samonakis, Andrew K. Burroughs, Maria Mela, Ulrich Thalheimer, Dimitrios Samonakis, Andrew K. Burroughs, Yogesh M. Shastri, Jürgen M. Stein, Ronnen H. Segman, Arieh Y. Shalev, Giris Jacob, David Robertson, Alexander K. C. Leung, William Lane M. Robson, Alexander K. C. Leung, Katja Lampinen, Karolina Kublickiene, Risto Kaaja, Radosław Lenarczyk, Oskar Kowalski, Zbigniew Kalarus, Dan Wichterle, Alexander K. C. Leung, Jamie Maguire, Istvan Mody, Katrien Janssens, Filip Vanhoenacker, Wim Van Hul, Hans-Jürgen Gdynia, Albert C. Ludolph, James V. Leonard, Hugo Ten Cate, Karel Geboes, Gert Van Assche, Hugo Ten Cate, Jo H. M. Berden, Toin H. Van Kuppevelt, Angelique L. Rops, Hugo Ten Cate, Hugo Ten Cate, Jorge Frank, Thomas Schwarz, Christina M. Ambros-Rudolph, Valéria Lamounier-Zepter, Christie P. Thomas, Christie P. Thomas, Christie P. Thomas, Christian A. Koch, Lee S. Weinstein, Caroline Silve, Alexander K. C. Leung, Jouni Uitto, Qiujie Jiang, Alexander K. C. Leung   +199 more
openaire   +1 more source

Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitioners

Journal for Specialists in Pediatric Nursing, 2021
Jane DeLuca, Tracy B Lowe, Georgianne Arnold   +2 more
exaly  

Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province

Brain and Development, 2021
Yilun Tao, Xiaoze Li
exaly