PMC Links for Protein (Select 4557819) - PMC

Select item 66835071.

Rapid detection of PAH gene mutations in Chinese people

Xin Zhang, Huan-Xin Chen, Chuan Li, Gui Zhang, Sheng-Yun Liao, Zhuo-chun Peng, Xiao-Ping Lai, Ling-Li Wang

BMC Med Genet. 2019; 20: 135. Published online 2019 Aug 5. doi: 10.1186/s12881-019-0860-5

PMCID:: PMC6683507

Select item 66282512.

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase

Martina Pecimonova, Daniela Kluckova, Frantisek Csicsay, Kamila Reblova, Jan Krahulec, Dagmar Procházkova, Ludovit Skultety, Ludevit Kadasi, Andrea Soltysova

Genes (Basel) 2019 Jun; 10(6): 459. Published online 2019 Jun 15. doi: 10.3390/genes10060459

PMCID:: PMC6628251

Abstract Article PDF–1008K

Select item 63547803.

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

Tychele N. Turner, Christopher Douville, Dewey Kim, Peter D. Stenson, David N. Cooper, Aravinda Chakravarti, Rachel Karchin

Hum Mol Genet. 2015 Nov 1; 24(21): 5995–6002. Published online 2015 Aug 5. doi: 10.1093/hmg/ddv309

PMCID:: PMC6354780

Abstract Article PDF–444K

Select item 60625124.

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

Abstract Article PDF–1.0M

Select item 56695135.

Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies

Khalid M. Sumaily, Ahmed H. Mujamammi

Int J Health Sci (Qassim) 2017 Nov-Dec; 11(5): 63–70.

PMCID:: PMC5669513

Abstract Article PDF–731K

Select item 55337326.

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients

Tianwen Zhu, Jun Ye, Lianshu Han, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Xuefan Gu

Sci Rep. 2017; 7: 6762. Published online 2017 Jul 28. doi: 10.1038/s41598-017-06462-y

PMCID:: PMC5533732

Abstract Article PDF–1.6M

Select item 50248537.

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

Abstract Article PDF–494K

Select item 47291118.

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

Abstract Article PDF–689K

Select item 42133369.

The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH₄) Responsiveness

Gladys Ho, Ian Alexander, Kaustuv Bhattacharya, Barbara Dennison, Carolyn Ellaway, Sue Thompson, Bridget Wilcken, John Christodoulou

JIMD Rep. 2014; 14: 55–65. Published online 2013 Dec 25. doi: 10.1007/8904_2013_284

PMCID:: PMC4213336

Abstract Article PDF–206K

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