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There are 12048 results for: content related to: Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro

  1. Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 927–936, Caroline Heintz, Richard G.H. Cotton and Nenad Blau

    Article first published online : 1 MAY 2013, DOI: 10.1002/humu.22320

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    Molecular Epidemiology of Phenylalanine Hydroxylase Deficiency in Southern Italy: a 96% Detection Rate with Ten Novel Mutations

    Annals of Human Genetics

    Volume 71, Issue 2, March 2007, Pages: 185–193, A. Daniele, G. Cardillo, C. Pennino, M. T. Carbone, D. Scognamiglio, A. Correra, A. Pignero, G. Castaldo and F. Salvatore

    Article first published online : 10 NOV 2006, DOI: 10.1111/j.1469-1809.2006.00328.x

  3. Generation n + 1: Projected numbers of babies born to women with PKU compared to babies with PKU in the United States in 2009

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1118–1123, Robert Resta

    Article first published online : 11 APR 2012, DOI: 10.1002/ajmg.a.35312

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    Relationship between myelin production and dopamine synthesis in the PKU mouse brain

    Journal of Neurochemistry

    Volume 86, Issue 3, August 2003, Pages: 615–626, Bernadin Joseph and Charissa A. Dyer

    Article first published online : 3 JUL 2003, DOI: 10.1046/j.1471-4159.2003.01887.x

  5. Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging

    Magnetic Resonance in Medicine

    Volume 58, Issue 6, December 2007, Pages: 1145–1156, Peter Vermathen, Laure Robert-Tissot, Joachim Pietz, Thomas Lutz, Chris Boesch and Roland Kreis

    Article first published online : 28 NOV 2007, DOI: 10.1002/mrm.21422

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    Strategies Used in Production of Phenylalanine-Free Foods for PKU Management

    Comprehensive Reviews in Food Science and Food Safety

    Volume 13, Issue 3, May 2014, Pages: 287–299, Nafiseh Soltanizadeh and Leila Mirmoghtadaie

    Article first published online : 16 APR 2014, DOI: 10.1111/1541-4337.12057

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    Epilepsy in Phenylketonuria: A Complex Dependence on Serum Phenylalanine Levels

    Epilepsia

    Volume 48, Issue 6, June 2007, Pages: 1143–1150, Anatoly E. Martynyuk, Deniz A. Ucar, Dawn D. Yang, Wendy M. Norman, Paul R. Carney, Donn M. Dennis and Philip J. Laipis

    Article first published online : 1 MAY 2007, DOI: 10.1111/j.1528-1167.2007.01115.x

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    PKU in Minas Gerais State, Brazil: Mutation Analysis

    Annals of Human Genetics

    Volume 72, Issue 6, November 2008, Pages: 774–779, L. L. Santos, M. Castro-Magalhães, C.G. Fonseca, A. L. P. Starling, J. N. Januário, M. J. B. Aguiar and M. R. S. Carvalho

    Article first published online : 16 SEP 2008, DOI: 10.1111/j.1469-1809.2008.00476.x

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    A Mutation Analysis of the Phenylalanine Hydroxylase (PAH) Gene in the Israeli Population

    Annals of Human Genetics

    Volume 72, Issue 3, May 2008, Pages: 305–309, D. Bercovich, A. Elimelech, T. Yardeni, S. Korem, J. Zlotogora, N. Gal, N. Goldstein, B. Vilensky, R. Segev, S. Avraham, R. Loewenthal, G. Schwartz and Y. Anikster

    Article first published online : 19 FEB 2008, DOI: 10.1111/j.1469-1809.2007.00425.x

  10. You have full text access to this OnlineOpen article
    Altered brain protein expression profiles are associated with molecular neurological dysfunction in the PKU mouse model

    Journal of Neurochemistry

    Volume 129, Issue 6, June 2014, Pages: 1002–1012, Esther Imperlini, Stefania Orrù, Claudia Corbo, Aurora Daniele and Francesco Salvatore

    Article first published online : 24 MAR 2014, DOI: 10.1111/jnc.12683

  11. PKU-5: An Aluminoborate with Novel Octahedral Framework Topology

    Chemistry - A European Journal

    Volume 10, Issue 16, August 20, 2004, Pages: 3901–3906, Jing Ju, Tao Yang, Guobao Li, Fuhui Liao, Yingxia Wang, Liping You and Jianhua Lin

    Article first published online : 21 JUN 2004, DOI: 10.1002/chem.200400066

  12. Microporous Aluminoborates with Large Channels: Structural and Catalytic Properties

    Angewandte Chemie International Edition

    Volume 50, Issue 52, December 23, 2011, Pages: 12555–12558, Dr. Tao Yang, Agnieszka Bartoszewicz, Dr. Jing Ju, Dr. Junliang Sun, Dr. Zheng Liu, Prof. Xiaodong Zou, Prof. Yingxia Wang, Prof. Guobao Li, Fuhui Liao, Prof. Belén Martín-Matute and Jianhua Lin

    Article first published online : 4 NOV 2011, DOI: 10.1002/anie.201106310

  13. Dietary interventions for phenylketonuria

    Intervention Review

    The Cochrane Library

    Vanessa J Poustie and Joanne Wildgoose

    Published Online : 20 JAN 2010, DOI: 10.1002/14651858.CD001304.pub2

  14. Microporous Aluminoborates with Large Channels: Structural and Catalytic Properties

    Angewandte Chemie

    Volume 123, Issue 52, December 23, 2011, Pages: 12763–12766, Dr. Tao Yang, Agnieszka Bartoszewicz, Dr. Jing Ju, Dr. Junliang Sun, Dr. Zheng Liu, Prof. Xiaodong Zou, Prof. Yingxia Wang, Prof. Guobao Li, Fuhui Liao, Prof. Belén Martín-Matute and Jianhua Lin

    Article first published online : 4 NOV 2011, DOI: 10.1002/ange.201106310

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    Dicarboxylic acids, ketocarboxylic acids, α-dicarbonyls, fatty acids, and benzoic acid in urban aerosols collected during the 2006 Campaign of Air Quality Research in Beijing (CAREBeijing-2006)

    Journal of Geophysical Research: Atmospheres (1984–2012)

    Volume 115, Issue D19, 16 October 2010, K. F. Ho, S. C. Lee, Steven Sai Hang Ho, Kimitaka Kawamura, Eri Tachibana, Y. Cheng and Tong Zhu

    Article first published online : 13 OCT 2010, DOI: 10.1029/2009JD013304

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    Fission yeast Ku protein is required for recovery from DNA replication stress

    Genes to Cells

    Volume 14, Issue 9, September 2009, Pages: 1091–1103, Tomoichiro Miyoshi, Junko Kanoh and Fuyuki Ishikawa

    Article first published online : 13 AUG 2009, DOI: 10.1111/j.1365-2443.2009.01337.x

  17. Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase

    Proteins: Structure, Function, and Bioinformatics

    Volume 80, Issue 1, January 2012, Pages: 61–70, Zhen Shi, Jenn Sellers and John Moult

    Article first published online : 21 SEP 2011, DOI: 10.1002/prot.23159

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    Size- and time-resolved chemical particle characterization during CAREBeijing-2006: Different pollution regimes and diurnal profiles

    Journal of Geophysical Research: Atmospheres (1984–2012)

    Volume 114, Issue D2, 27 January 2009, D. van Pinxteren, E. Brüggemann, T. Gnauk, Y. Iinuma, K. Müller, A. Nowak, P. Achtert, A. Wiedensohler and H. Herrmann

    Article first published online : 5 MAY 2009, DOI: 10.1029/2008JD010890

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    The Birth Prevalence of PKU in Populations of European, South Asian and Sub-Saharan African Ancestry Living in South East England

    Annals of Human Genetics

    Volume 72, Issue 1, January 2008, Pages: 65–71, P. Hardelid, M. Cortina-Borja, A. Munro, H. Jones, M. Cleary, M. P. Champion, Y. Foo, C. R. Scriver and C. Dezateux

    Article first published online : 9 AUG 2007, DOI: 10.1111/j.1469-1809.2007.00389.x

  20. Oxidative stress induced by phenylketonuria in the rat: Prevention by melatonin, vitamin E, and vitamin C

    Journal of Neuroscience Research

    Volume 69, Issue 4, 15 August 2002, Pages: 550–558, Francisco Martinez-Cruz, David Pozo, Carmen Osuna, Auxiliadora Espinar, Concepcion Marchante and Juan M. Guerrero

    Article first published online : 12 JUN 2002, DOI: 10.1002/jnr.10307