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There are 6962 results for: content related to: Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency

  1. Long-lasting Effect of Maternal Hyperphenylalaninemia during Pregnancy on Postnatal Brain Development of Mice: Biochemical and Morphological Studies

    Congenital Anomalies

    Volume 35, Issue 2, June 1995, Pages: 199–206, Yasushi YAMAWAKI, Noriaki OHYA and Morimi SHIMADA

    Version of Record online : 2 MAY 2008, DOI: 10.1111/j.1741-4520.1995.tb00611.x

  2. Chronic Hyperphenylalaninemia Produces Cerebral Hyperglycinemia in Immature Rats

    Journal of Neurochemistry

    Volume 36, Issue 1, January 1981, Pages: 34–43, Gerald A. Dienel

    Version of Record online : 5 OCT 2006, DOI: 10.1111/j.1471-4159.1981.tb02374.x

  3. The frequency of PKU and hyperphenylalaninemia in Sweden - a study in institutions for the mentally retarded as well as in neonates

    Clinical Genetics

    Volume 10, Issue 5, November 1976, Pages: 313–318, Gösta Holmgren, Agne Larsson, Hans Palmstierna and Jan Alm

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1976.tb00054.x


    Acta Paediatrica

    Volume 61, Issue 3, May 1972, Pages: 321–328, F. GÜTTLER and E. WAMBERG

    Version of Record online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1972.tb16107.x

  5. Transient Neonatal Hyperphenylalaninemia due to Immature Development of 7, 8-Dihydrobiopterin Synthesis

    Pediatrics International

    Volume 26, Issue 4, December 1984, Pages: 561–564, Yoshitomo Sawada, Haruo Shintaku, Gen Isshiki, Yutaka Hase, Tsuneo Tsuruhara and Toshiaki Oura

    Version of Record online : 9 OCT 2007, DOI: 10.1111/j.1442-200X.1984.tb01863.x

  6. Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia

    Acta Paediatrica

    Volume 83, Issue s407, December 1994, Pages: 49–56, F Güttler and P Guldberg

    Version of Record online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1994.tb13451.x

  7. Biochemical Studies on the Effect of Maternal Hyperphenyl-alaninemia on Fetal Brain Maturation of Mice

    Congenital Anomalies

    Volume 28, Issue 2, June 1988, Pages: 79–83, Yasushi YAMAWAKI, Noriaki OHYA and Morimi SHIMADA

    Version of Record online : 2 MAY 2008, DOI: 10.1111/j.1741-4520.1988.tb00580.x

  8. Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia

    Human Mutation

    Volume 13, Issue 4, 1999, Pages: 286–289, Tanja Scherer-Oppliger, Ana Matasovic, Stephanie Laufs, Harvey L. Levy, Elisabeth J. Quackenbush, Nenad Blau and Beat Thöny

    Version of Record online : 31 MAR 1999, DOI: 10.1002/(SICI)1098-1004(1999)13:4<286::AID-HUMU4>3.0.CO;2-C

  9. Maternal hyperphenylalaninemia: An experimental model in rats

    Developmental Psychobiology

    Volume 9, Issue 2, March 1976, Pages: 157–166, Arnold Andersen

    Version of Record online : 13 OCT 2004, DOI: 10.1002/dev.420090208

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    Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation

    Human Mutation

    Volume 23, Issue 2, February 2004, Page: 206, Yin-Hsiu Chien, Shu-Chuan Chiang, Aichu Huang, Shi-Ping Chou, Szu-San Tseng, Yuan-Te Huang and Wuh-Liang Hwu

    Version of Record online : 8 JAN 2004, DOI: 10.1002/humu.9215

  11. Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia

    Movement Disorders

    Volume 26, Issue 1, January 2011, Pages: 157–161, Thomas Opladen, Georg Hoffmann, Friederike Hörster, Anne-Bärbel Hinz, Katharina Neidhardt, Christine Klein and Nicole Wolf

    Version of Record online : 3 SEP 2010, DOI: 10.1002/mds.23329

  12. Effects of Maternal Hyperphenylalaninemia on Postnatal Myelination in Mice

    Congenital Anomalies

    Volume 27, Issue 4, December 1987, Pages: 419–430, Akiko SASAHARA, Noriaki OHYA and Morimi SHIMADA

    Version of Record online : 2 MAY 2008, DOI: 10.1111/j.1741-4520.1987.tb00723.x

  13. Neurological outcome in 22 treated adolescents with hyperphenylalaninemia

    Acta Neurologica Scandinavica

    Volume 85, Issue 4, April 1992, Pages: 243–248, A. C. Ludolph, K. Ullrich, S. Nedjat, H. Masur and U. Bick

    Version of Record online : 29 JAN 2009, DOI: 10.1111/j.1600-0404.1992.tb04039.x


    Journal of Neurochemistry

    Volume 18, Issue 12, December 1971, Pages: 2371–2382, R. I. Glazer and G. Weber

    Version of Record online : 4 OCT 2006, DOI: 10.1111/j.1471-4159.1971.tb00192.x

  15. Dihydropteridine reductase deficiency in man: From biology to treatment

    Medicinal Research Reviews

    Volume 24, Issue 2, March 2004, Pages: 127–150, Alberto Ponzone, Marco Spada, Silvio Ferraris, Irma Dianzani and Luisa de Sanctis

    Version of Record online : 24 DEC 2003, DOI: 10.1002/med.10055

  16. You have free access to this content
    Molecular analysis of phenylketonuria (PKU) in newborns from Texas

    Human Mutation

    Volume 17, Issue 6, June 2001, Page: 523, Y. Yang, M. Drummond-Borg and J. Garcia-Heras

    Version of Record online : 25 MAY 2001, DOI: 10.1002/humu.1141

  17. You have free access to this content
    Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities

    Journal of Neurochemistry

    Volume 95, Issue 3, November 2005, Pages: 703–714, Chiho Sumi-Ichinose, Fumi Urano, Atsushi Shimomura, Takashi Sato, Kazuhisa Ikemoto, Hiroaki Shiraishi, Takao Senda, Hiroshi Ichinose and Takahide Nomura

    Version of Record online : 31 AUG 2005, DOI: 10.1111/j.1471-4159.2005.03402.x

  18. Fetal Heart Malformations in Experimental Hyperphenylalaninemia in Pregnant Rats

    Congenital Anomalies

    Volume 29, Issue 1, March 1989, Pages: 15–29, Itsujin SUYAMA, Mayumi TANI, Masahiro MATSUMURA, Gen ISSHIKI, Yoshiyuki OKANO, Toshiaki OURA and Kouichi NISHI-MURA

    Version of Record online : 2 MAY 2008, DOI: 10.1111/j.1741-4520.1989.tb00732.x


    Journal of Neurochemistry

    Volume 23, Issue 1, July 1974, Pages: 139–147, Y. H. Loo

    Version of Record online : 4 OCT 2006, DOI: 10.1111/j.1471-4159.1974.tb06928.x

  20. Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency

    Human Mutation

    Volume 11, Issue 1, 1998, Pages: 76–83, Tze-Tze Liu, Kwang-Jen Hsiao, Sheng-Feng Lu, Sheu-Jen Wu, Kuei-Fen Wu, Szu-Hui Chiang, Xiao-Quing Liu, Rui-Guan Chen and Wei-Min Yu

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1998)11:1<76::AID-HUMU12>3.0.CO;2-W