U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 39

1.
Maternal Phenylketonuria (MPKU)
W.E. Schoonheyt, W.B. Hanley, J.T.R. Clarke, V. Austin, D.A. Howe
Can Fam Physician. 1986 Oct; 32: 2253, 2255, 2257-2258.
PMCID:
PMC2328240
SummaryPage BrowsePDF–793K
2.
Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China
Nana Li, Chunhua He, Jing Li, Jing Tao, Zhen Liu, Chunyan Zhang, Yuan Yuan, Hui Jiang, Jun Zhu, Ying Deng, Yixiong Guo, Qintong Li, Ping Yu, Yanping Wang
Sci Rep. 2018; 8: 11251. Published online 2018 Jul 26. doi: 10.1038/s41598-018-29640-y
PMCID:
PMC6062512
AbstractArticlePDF–1.0M
3.
Molecular basis of mild hyperphenylalaninaemia in Poland.
C Zekanowski, M Nowacka, B Cabalska, J Bal
J Med Genet. 1997 Dec; 34(12): 1035–1036. doi: 10.1136/jmg.34.12.1035
PMCID:
PMC1051162
SummaryPage BrowsePDF–309K
4.
Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects.
L A Tyfield, J Zschocke, A Stephenson, F Cockburn, A Harvie, J L Bidwell, N A Wood, L P Hunt
J Med Genet. 1995 Nov; 32(11): 867–870. doi: 10.1136/jmg.32.11.867
PMCID:
PMC1051737
SummaryPage BrowsePDF–762K
5.
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
6.
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
Elise Jeannesson-Thivisol, François Feillet, Céline Chéry, Pascal Perrin, Shyue-Fang Battaglia-Hsu, Bernard Herbeth, Aline Cano, Magalie Barth, Alain Fouilhoux, Karine Mention, François Labarthe, Jean-Baptiste Arnoux, François Maillot, Catherine Lenaerts, Cécile Dumesnil, Kathy Wagner, Daniel Terral, Pierre Broué, Loïc de Parscau, Claire Gay, Alice Kuster, Antoine Bédu, Gérard Besson, Delphine Lamireau, Sylvie Odent, Alice Masurel, Jean-Louis Guéant, Fares Namour
Orphanet J Rare Dis. 2015; 10: 158. Published online 2015 Dec 15. doi: 10.1186/s13023-015-0375-x
PMCID:
PMC5024853
AbstractArticlePDF–494K
7.
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China
Ting Chen, Weize Xu, Dingwen Wu, Jiamin Han, Ling Zhu, Fan Tong, Rulai Yang, Zhengyan Zhao, Pingping Jiang, Qiang Shu
Sci Rep. 2018; 8: 17137. Published online 2018 Nov 20. doi: 10.1038/s41598-018-35373-9
PMCID:
PMC6244417
AbstractArticlePDF–1.2M
8.
The Genetic Landscape and Epidemiology of Phenylketonuria
Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana, Alberto Burlina, Barbara K. Burton, Carla Carducci, Ana E. Chiesa, John Christodoulou, Maja Đorđević, Lourdes R. Desviat, Aviva Eliyahu, Roeland A.F. Evers, Lena Fajkusova, François Feillet, Pedro E. Bonfim-Freitas, Maria Giżewska, Polina Gundorova, Daniela Karall, Katya Kneller, Sergey I. Kutsev, Vincenzo Leuzzi, Harvey L. Levy, Uta Lichter-Konecki, Ania C. Muntau, Fares Namour, Mariusz Oltarzewski, Andrea Paras, Belen Perez, Emil Polak, Alexander V. Polyakov, Francesco Porta, Marianne Rohrbach, Sabine Scholl-Bürgi, Norma Spécola, Maja Stojiljković, Nan Shen, Luiz C. Santana-da Silva, Anastasia Skouma, Francjan van Spronsen, Vera Stoppioni, Beat Thöny, Friedrich K. Trefz, Jerry Vockley, Youngguo Yu, Johannes Zschocke, Georg F. Hoffmann, Sven F. Garbade, Nenad Blau
Am J Hum Genet. 2020 Aug 6; 107(2): 234–250. Published online 2020 Jul 14. doi: 10.1016/j.ajhg.2020.06.006
PMCID:
PMC7413859
AbstractArticlePDF–2.0M
9.
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations
Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Isabel Ibarra-González, Ariadna González-del Angel, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Rosa Itzel Carrillo-Nieto, Leticia Belmont-Martínez, Cynthia Fernández-Lainez
Genes (Basel) 2021 Nov; 12(11): 1676. Published online 2021 Oct 23. doi: 10.3390/genes12111676
PMCID:
PMC8620669
AbstractArticlePDF–2.3M
10.
Genetic etiology and clinical challenges of phenylketonuria
Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Ezzeldin N. Elhawary, Nagwa Gaboon, Mohammed Dandini, Abdulelah Madkhali, Wafaa Alosaimi, Abdulmajeed Alzahrani, Fawzia Aljohani, Ehab M. Melibary, Osama A. Kensara
Hum Genomics. 2022; 16: 22. Published online 2022 Jul 19. doi: 10.1186/s40246-022-00398-9
PMCID:
PMC9295449
AbstractArticlePDF–1.5M
11.
Allelic phenotype prediction of phenylketonuria based on the machine learning method
Yang Fang, Jinshuang Gao, Yaqing Guo, Xiaole Li, Enwu Yuan, Erfeng Yuan, Liying Song, Qianqian Shi, Haiyang Yu, Dehua Zhao, Linlin Zhang
Hum Genomics. 2023; 17: 34. Published online 2023 Mar 31. doi: 10.1186/s40246-023-00481-9
PMCID:
PMC10064562
AbstractArticlePDF–1.5M
12.
Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran
Aria Setoodeh, Bahram Yarali, Ali Rabbani, Shohreh Khatami, Sedigheh Shams
Mol Genet Metab Rep. 2015 Mar; 2: 77–79. Published online 2015 Jan 28. doi: 10.1016/j.ymgmr.2015.01.001
PMCID:
PMC5471163
AbstractArticlePDF–310K
13.
Assessing the lived experiences of females with phenylketonuria in their health management
Abigail Aronoff, Yue Guan, Saran Gurung, Dawn L. Comeau, Rani H. Singh
Mol Genet Metab Rep. 2024 Sep; 40: 101095. Published online 2024 May 24. doi: 10.1016/j.ymgmr.2024.101095
PMCID:
PMC11152756
AbstractArticlePDF–2.2M
14.
Influence of blood phenylalanine level variations on the development of executive functions and social cognition in children with phenylketonuria
Cristiane Mendes de Almeida Duarte, Flavia Balbo Piazzon, Isadora Salvador Rocco, Claudia Berlim de Mello
J Pediatr (Rio J) 2023 Sep-Oct; 99(5): 507–513. Published online 2023 May 10. doi: 10.1016/j.jped.2023.04.003
PMCID:
PMC10492152
AbstractArticlePDF–438K
15.
Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed
Thoalnoon O. A, Kareem A. A, Hammoodi H. Z
Arch Razi Inst. 2023 Apr; 78(2): 667–673. Published online 2023 Apr 30. doi: 10.22092/ARI.2022.359480.2431
PMCID:
PMC10314256
AbstractArticlePDF–394K
16.
PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania
Alin Iuhas, Claudia Jurca, Kinga Kozma, Anca-Lelia Riza, Ioana Streață, Codruța Petcheși, Andra Dan, Cristian Sava, Andreea Balmoș, Cristian Marinău, Larisa Niulaș, Mihai Ioana, Marius Bembea
Diagnostics (Basel) 2023 Apr; 13(8): 1483. Published online 2023 Apr 20. doi: 10.3390/diagnostics13081483
PMCID:
PMC10137343
AbstractArticlePDF–280K
17.
Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria
HJ Vernon, C Koerner, M Johnson, A Bergner, A Hamosh
Mol Genet Metab. Author manuscript; available in PMC 2011 Jul 13.
Published in final edited form as: Mol Genet Metab. 2010 Jul; 100(3): 229–233. Published online 2010 Apr 3. doi: 10.1016/j.ymgme.2010.03.022
PMCID:
PMC3135651
AbstractArticlePDF–225K
18.
Long-Term Pharmacological Management of Phenylketonuria, Including Patients Below the Age of 4 Years
M L Couce, M D Bóveda, E Valerio, A Pérez-Muñuzuri, J M Fraga
JIMD Rep. 2012; 2: 91–96. Published online 2011 Sep 6. doi: 10.1007/8904_2011_53
PMCID:
PMC3509844
AbstractArticlePDF–102K
19.
Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome
Jessica A. Scott Schwoerer, Lisa Obernolte, Sandra Van Calcar, Susan Heighway, Heather Bankowski, Phillip Williams, Gregory Rice
JIMD Rep. 2012; 6: 15–20. Published online 2012 Jan 31. doi: 10.1007/8904_2011_95
PMCID:
PMC3565668
AbstractArticlePDF–167K
20.
Quality of Life (QoL) assessment in a cohort of patients with Phenylketonuria
Chiara Cazzorla, Luca Cegolon, Alessandro P Burlina, Andrea Celato, Pamela Massa, Laura Giordano, Giulia Polo, Aurora Daniele, Francesco Salvatore, Alberto B Burlina
BMC Public Health. 2014; 14: 1243. Published online 2014 Dec 4. doi: 10.1186/1471-2458-14-1243
PMCID:
PMC4265392
AbstractArticlePDF–317K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center