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Items: 13

1.
Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study
Rianne Jahja, Francjan J. van Spronsen, Leo M. J. de Sonneville, Jaap J. van der Meere, Annet M. Bosch, Carla E. M. Hollak, M. Estela Rubio-Gozalbo, Martijn C. G. J. Brouwers, Floris C. Hofstede, Maaike C. de Vries, Mirian C. H. Janssen, Ans T. van der Ploeg, Janneke G. Langendonk, Stephan C. J. Huijbregts
J Inherit Metab Dis. 2016; 39(3): 355–362. Published online 2016 Feb 25. doi: 10.1007/s10545-016-9918-0
PMCID:
PMC4851698
AbstractArticlePDF–365K
2.
Phenylketonuria: translating research into novel therapies
Gladys Ho, John Christodoulou
Transl Pediatr. 2014 Apr; 3(2): 49–62. doi: 10.3978/j.issn.2224-4336.2014.01.01
PMCID:
PMC4729111
AbstractArticlePDF–689K
3.
Phase 1 Trial of Subcutaneous rAvPAL-PEG in Subjects with Phenylketonuria
Nicola Longo, Cary O. Harding, Barbara K. Burton, Dorothy K. Grange, Jerry Vockley, Melissa Wasserstein, Gregory M. Rice, Donald G. Musson, Zhonghua Gu, Saba Sile
Lancet. Author manuscript; available in PMC 2015 Jul 5.
Published in final edited form as: Lancet. 2014 Jul 5; 384(9937): 37–44. Published online 2014 Apr 14. doi: 10.1016/S0140-6736(13)61841-3
PMCID:
PMC4447208
AbstractArticlePDF–529K
4.
Bone health in phenylketonuria: a systematic review and meta-analysis
Serwet Demirdas, Katie E Coakley, Peter H Bisschop, Carla E M Hollak, Annet M Bosch, Rani H Singh
Orphanet J Rare Dis. 2015; 10: 17. Published online 2015 Feb 15. doi: 10.1186/s13023-015-0232-y
PMCID:
PMC4340652
AbstractArticlePDF–3.4M
5.
New Strategies for the Treatment of Phenylketonuria (PKU)
Pietro Strisciuglio, Daniela Concolino
Metabolites. 2014 Dec; 4(4): 1007–1017. Published online 2014 Nov 4. doi: 10.3390/metabo4041007
PMCID:
PMC4279156
AbstractArticlePDF–240K
6.
Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study
Sarah Leuders, Eva Wolfgart, Torsten Ott, Marcel du Moulin, Agnes van Teeffelen-Heithoff, Lydia Vogelpohl, Ulrike Och, Thorsten Marquardt, Josef Weglage, Reinhold Feldmann, Frank Rutsch
JIMD Rep. 2014; 13: 101–109. Published online 2013 Nov 5. doi: 10.1007/8904_2013_263
PMCID:
PMC4110336
AbstractArticlePDF–322K
7.
Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
Rani H. Singh, Fran Rohr, Dianne Frazier, Amy Cunningham, Shideh Mofidi, Beth Ogata, Patricia L. Splett, Kathryn Moseley, Kathleen Huntington, Phyllis B. Acosta, Jerry Vockley, Sandra C. Van Calcar
Genet Med. 2014 Feb; 16(2): 121–131. Published online 2014 Jan 2. doi: 10.1038/gim.2013.179
PMCID:
PMC3918542
AbstractArticlePDF–421K
8.
Mild hyperphenylalaninemia: to treat or not to treat
Francjan J. van Spronsen
J Inherit Metab Dis. 2011; 34(3): 651–656. Published online 2011 Feb 24. doi: 10.1007/s10545-011-9283-y
PMCID:
PMC3183992
AbstractArticlePDF–126K
9.
Effects of dietary management of phenylketonuria on long‐term cognitive outcome
Shelley Channon, Galya Goodman, Sally Zlotowitz, Caroline Mockler, Philip J Lee
Arch Dis Child. 2007 Mar; 92(3): 213–218. Published online 2006 Oct 18. doi: 10.1136/adc.2006.104786
PMCID:
PMC2083434
AbstractArticlePDF–170K
10.
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
E Kayaalp, E Treacy, P J Waters, S Byck, P Nowacki, C R Scriver
Am J Hum Genet. 1997 Dec; 61(6): 1309–1317. doi: 10.1086/301638
PMCID:
PMC1716084
SummaryPage BrowsePDF–1.4M
11.
Carrier screening for phenylketonuria: comparison of two discriminant analysis procedures.
C L Freehauf, D Lezotte, S I Goodman, E R McCabe
Am J Hum Genet. 1984 Nov; 36(6): 1180–1189.
PMCID:
PMC1684636
SummaryPage BrowsePDF–946K
12.
Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes.
D DiSilvestre, R Koch, J Groffen
Am J Hum Genet. 1991 May; 48(5): 1014–1016.
PMCID:
PMC1683043
SummaryPage BrowsePDF–620K
13.
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
P Guldberg, F Rey, J Zschocke, V Romano, B François, L Michiels, K Ullrich, G F Hoffmann, P Burgard, H Schmidt, C Meli, E Riva, I Dianzani, A Ponzone, J Rey, F Güttler
Am J Hum Genet. 1998 Jul; 63(1): 71–79. doi: 10.1086/301920
Correction in:
Am J Hum Genet, volume 63 on page 1252
PMCID:
PMC1377241
SummaryPDF–457K

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