PAH c.143T>C ;(p.L48S)

Variant ID: 12-103306594-A-G

NM_000277.1(PAH):c.143T>C;(p.L48S)

This variant was identified in 76 publications

View GRCh38 version.




Publications:


Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth.

Scientific Reports
Theron, Maurane M; Jeannesson, Elise E; Canton, Marie M; Namour, Farès F; Oussalah, Abderrahim A; Feillet, François F; Wiedemann, Arnaud A
Publication Date: 2023-06-12

Variant appearance in text: PAH: 143T>C
PubMed Link: 37308610
Variant Present in the following documents:
  • 41598_2023_Article_36550.pdf
View BVdb publication page



PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania.

Diagnostics (Basel, Switzerland)
Iuhas, Alin A; Jurca, Claudia C; Kozma, Kinga K; Riza, Anca-Lelia AL; Streață, Ioana I; Petcheși, Codruța C; Dan, Andra A; Sava, Cristian C; Balmoș, Andreea A; Marinău, Cristian C; Niulaș, Larisa L; Ioana, Mihai M; Bembea, Marius M
Publication Date: 2023-04-20

Variant appearance in text: PAH: Leu48Ser
PubMed Link: 37189584
Variant Present in the following documents:
  • Main text
  • diagnostics-13-01483.pdf
View BVdb publication page



Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.

Endocrinology, Diabetes & Metabolism
Rovelli, Valentina V; Cefalo, Graziella G; Ercoli, Vittoria V; Zuvadelli, Juri J; Olivia, Turri T; Graziani, Daniela D; Luisella, Alberti A; Bassi, Davide D; Re Dionigi, Alice A; Selmi, Raed R; Paci, Sabrina S; Salvatici, Elisabetta E; Banderali, Giuseppe G
Publication Date: 2022-12-19

Variant appearance in text: PAH: Leu48Ser
PubMed Link: 36537053
Variant Present in the following documents:
  • Main text
  • EDM2-6-e396.pdf
View BVdb publication page



The analysis of using a panel of the most common variants in the PAH gene for the newborn screening in Ukraine.

Molecular Genetics And Metabolism Reports
Fishchuk, Liliya L; Rossokha, Zoia Z; Olkhovich, Natalia N; Pichkur, Nataliia N; Popova, Olena O; Medvedieva, Nataliia N; Vershyhora, Viktoriia V; Dubitska, Olha O; Shkurko, Tetiana T; Popovych, Larysa L; Bondar, Olga O; Morozuk, Irina I; Onyshchenko, Svitlana S; Yevtushok, Lyubov L; Tsizh, Oksana O; Bryl, Iryna I; Tul, Olena O; Kalynka, Svitlana S; Zinkina, Iryna I; Matviiuk, Svitlana S; Riabova, Yulianna Y; Gorovenko, Nataliia N
Publication Date: 2022-09

Variant appearance in text: PAH: L48S
PubMed Link: 36046396
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants.

Scientific Reports
Sarodaya, Neha N; Tyagi, Apoorvi A; Kim, Hyun-Jin HJ; Kang, Ju-Seop JS; Singh, Vijai V; Hong, Seok-Ho SH; Kim, Woo Jin WJ; Kim, Kye-Seong KS; Ramakrishna, Suresh S
Publication Date: 2022-08-20

Variant appearance in text: PAH: L48S
PubMed Link: 35987969
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_18656.pdf
View BVdb publication page



Genetic etiology and clinical challenges of phenylketonuria.

Human Genomics
Elhawary, Nasser A NA; AlJahdali, Imad A IA; Abumansour, Iman S IS; Elhawary, Ezzeldin N EN; Gaboon, Nagwa N; Dandini, Mohammed M; Madkhali, Abdulelah A; Alosaimi, Wafaa W; Alzahrani, Abdulmajeed A; Aljohani, Fawzia F; Melibary, Ehab M EM; Kensara, Osama A OA
Publication Date: 2022-07-19

Variant appearance in text: PAH: L48S
PubMed Link: 35854334
Variant Present in the following documents:
  • 40246_2022_Article_398.pdf
View BVdb publication page



Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Jimd Reports
Martín-Rivada, Álvaro Á; Palomino Pérez, Laura L; Ruiz-Sala, Pedro P; Navarrete, Rosa R; Cambra Conejero, Ana A; Quijada Fraile, Pilar P; Moráis López, Ana A; Belanger-Quintana, Amaya A; Martín-Hernández, Elena E; Bellusci, Marcello M; Cañedo Villaroya, Elvira E; Chumillas Calzada, Silvia S; García Silva, María Teresa MT; Bergua Martínez, Ana A; Stanescu, Sinziana S; Martínez-Pardo Casanova, Mercedes M; Ruano, Miguel L F MLF; Ugarte, Magdalena M; Pérez, Belén B; Pedrón-Giner, Consuelo C
Publication Date: 2022-03

Variant appearance in text: PAH: Leu48Ser
PubMed Link: 35281663
Variant Present in the following documents:
  • Main text
  • JMD2-63-146.pdf
View BVdb publication page



Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases
Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z
Publication Date: 2022-02-21

Variant appearance in text: PAH: 143T>C
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: PAH: L48S; rs5030841
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier.

Molecular Genetics And Metabolism Reports
Klaassen, K K; Djordjevic, M M; Skakic, A A; Kecman, B B; Drmanac, R R; Pavlovic, S S; Stojiljkovic, M M
Publication Date: 2021-12

Variant appearance in text: PAH: L48S
PubMed Link: 34900593
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria.

Nutrients
Scala, Iris I; Concolino, Daniela D; Nastasi, Anna A; Esposito, Giulia G; Crisci, Daniela D; Sestito, Simona S; Ferraro, Stefania S; Albano, Lucia L; Ruoppolo, Margherita M; Parenti, Giancarlo G; Strisciuglio, Pietro P
Publication Date: 2021-11-10

Variant appearance in text: PAH: L48S
PubMed Link: 34836270
Variant Present in the following documents:
  • Main text
  • nutrients-13-04012.pdf
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: PAH: L48S
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

Molecular Genetics & Genomic Medicine
Ferreira, Filipa F; Azevedo, Luísa L; Neiva, Raquel R; Sousa, Carmen C; Fonseca, Helena H; Marcão, Ana A; Rocha, Hugo H; Carmona, Célia C; Ramos, Sónia S; Bandeira, Anabela A; Martins, Esmeralda E; Campos, Teresa T; Rodrigues, Esmeralda E; Garcia, Paula P; Diogo, Luísa L; Ferreira, Ana Cristina AC; Sequeira, Silvia S; Silva, Francisco F; Rodrigues, Luísa L; Gaspar, Ana A; Janeiro, Patrícia P; Amorim, António A; Vilarinho, Laura L
Publication Date: 2021-03

Variant appearance in text: PAH: 143T>C; Leu48Ser
PubMed Link: 33465300
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1559.pdf
View BVdb publication page



Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance.

Molecular Genetics And Metabolism Reports
Kreile, M M; Lubina, O O; Ozola-Zalite, I I; Lugovska, R R; Pronina, N N; Sterna, O O; Vevere, P P; Konika, M M; Malniece, I I; Gailite, L L
Publication Date: 2020-12

Variant appearance in text: PAH: 143T>C; Leu48Ser
PubMed Link: 33101986
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Journal Of Personalized Medicine
Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2020-09-22

Variant appearance in text: PAH: L48S; rs5030841
PubMed Link: 32971794
Variant Present in the following documents:
  • Main text
  • jpm-10-00140-s001.pdf
  • jpm-10-00140.pdf
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: PAH: 143T>C; Leu48Ser
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



The Genetic Landscape and Epidemiology of Phenylketonuria.

American Journal Of Human Genetics
Hillert, Alicia A; Anikster, Yair Y; Belanger-Quintana, Amaya A; Burlina, Alberto A; Burton, Barbara K BK; Carducci, Carla C; Chiesa, Ana E AE; Christodoulou, John J; Đorđević, Maja M; Desviat, Lourdes R LR; Eliyahu, Aviva A; Evers, Roeland A F RAF; Fajkusova, Lena L; Feillet, François F; Bonfim-Freitas, Pedro E PE; Giżewska, Maria M; Gundorova, Polina P; Karall, Daniela D; Kneller, Katya K; Kutsev, Sergey I SI; Leuzzi, Vincenzo V; Levy, Harvey L HL; Lichter-Konecki, Uta U; Muntau, Ania C AC; Namour, Fares F; Oltarzewski, Mariusz M; Paras, Andrea A; Perez, Belen B; Polak, Emil E; Polyakov, Alexander V AV; Porta, Francesco F; Rohrbach, Marianne M; Scholl-Bürgi, Sabine S; Spécola, Norma N; Stojiljković, Maja M; Shen, Nan N; Santana-da Silva, Luiz C LC; Skouma, Anastasia A; van Spronsen, Francjan F; Stoppioni, Vera V; Thöny, Beat B; Trefz, Friedrich K FK; Vockley, Jerry J; Yu, Youngguo Y; Zschocke, Johannes J; Hoffmann, Georg F GF; Garbade, Sven F SF; Blau, Nenad N
Publication Date: 2020-08-06

Variant appearance in text: PAH: Leu48Ser
PubMed Link: 32668217
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: PAH: 143T>C; L48S
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
  • 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
View BVdb publication page



Large Neutral Amino Acids (LNAAs) Supplementation Improves Neuropsychological Performances in Adult Patients with Phenylketonuria.

Nutrients
Scala, Iris I; Riccio, Maria Pia MP; Marino, Maria M; Bravaccio, Carmela C; Parenti, Giancarlo G; Strisciuglio, Pietro P
Publication Date: 2020-04-15

Variant appearance in text: PAH: L48S
PubMed Link: 32326614
Variant Present in the following documents:
  • Main text
  • nutrients-12-01092.pdf
View BVdb publication page



Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation.

Orphanet Journal Of Rare Diseases
Cannet, Claire C; Pilotto, Andrea A; Rocha, Júlio César JC; Schäfer, Hartmut H; Spraul, Manfred M; Berg, Daniela D; Nawroth, Peter P; Kasperk, Christian C; Gramer, Gwendolyn G; Haas, Dorothea D; Piel, David D; Kölker, Stefan S; Hoffmann, Georg G; Freisinger, Peter P; Trefz, Friedrich F
Publication Date: 2020-02-27

Variant appearance in text: PAH: L48S
PubMed Link: 32106880
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.

International Journal Of Molecular Sciences
Zinchenko, Rena A RA; Makaov, Amin Kh AK; Marakhonov, Andrey V AV; Galkina, Varvara A VA; Kadyshev, Vitaly V VV; El'chinova, Galina I GI; Dadali, Elena L EL; Mikhailova, Lyudmila K LK; Petrova, Nika V NV; Petrina, Nina E NE; Vasilyeva, Tatyana A TA; Gundorova, Polina P; Polyakov, Alexander V AV; Alexandrova, Oksana Y OY; Kutsev, Sergey I SI; Ginter, Eugeny K EK
Publication Date: 2020-01-03

Variant appearance in text: PAH: 143T>C; L48S
PubMed Link: 31947737
Variant Present in the following documents:
  • Main text
  • ijms-21-00325.pdf
View BVdb publication page



Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.

Molecular Genetics & Genomic Medicine
Akler, Gidon G; Birch, Ashley H AH; Schreiber-Agus, Nicole N; Cai, Xiaoqiang X; Cai, Guiqing G; Shi, Lisong L; Yu, Chunli C; Larmore, Anastasia M AM; Mendiratta-Vij, Geetu G; Elkhoury, Lama L; Dillon, Mitchell W MW; Zhu, Jun J; Mclellan, Andrew S AS; Suer, Funda E FE; Webb, Bryn D BD; Schadt, Eric E EE; Kornreich, Ruth R; Edelmann, Lisa L
Publication Date: 2020-02

Variant appearance in text: PAH: 143T>C; L48S
PubMed Link: 31880409
Variant Present in the following documents:
  • MGG3-8-e1053-s001.xlsx, sheet 1
  • MGG3-8-e1053-s002.xlsx, sheet 1
View BVdb publication page



Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

Nutrients
van Vliet, Danique D; van Wegberg, Annemiek M J AMJ; Ahring, Kirsten K; Bik-Multanowski, Miroslaw M; Casas, Kari K; Didycz, Bozena B; Djordjevic, Maja M; Hertecant, Jozef L JL; Leuzzi, Vincenzo V; Mathisen, Per P; Nardecchia, Francesca F; Powell, Kimberly K KK; Rutsch, Frank F; Stojiljkovic, Maja M; Trefz, Fritz K FK; Usurelu, Natalia N; Wilson, Callum C; van Karnebeek, Clara D CD; Hanley, William B WB; van Spronsen, Francjan J FJ
Publication Date: 2019-10-25

Variant appearance in text: PAH: 143T>C; L48S
PubMed Link: 31731404
Variant Present in the following documents:
  • Main text
  • nutrients-11-02572.pdf
  • nutrients-11-02572-s001.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: PAH: 143T>C; Leu48Ser; rs5030841
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.

Annals Of Translational Medicine
Su, Yajie Y; Wang, Huijun H; Rejiafu, Nuerya N; Wu, Bingbing B; Jiang, Haili H; Chen, Hongbo H; A, Xian X; Qian, Yanyan Y; Li, Mingzhu M; Lu, Yulan Y; Ren, Yan Y; Li, Long L; Zhou, Wenhao W
Publication Date: 2019-06

Variant appearance in text: PAH: 143T>C; L48S
PubMed Link: 31355225
Variant Present in the following documents:
  • Main text
View BVdb publication page



Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports
Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X
Publication Date: 2019-07-02

Variant appearance in text: PAH: L48S
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.

Methods And Protocols
Tolve, Manuela M; Artiola, Cristiana C; Pasquali, Amelia A; Giovanniello, Teresa T; D'Amici, Sirio S; Angeloni, Antonio A; Pizzuti, Antonio A; Carducci, Claudia C; Leuzzi, Vincenzo V; Carducci, Carla C
Publication Date: 2018-08-16

Variant appearance in text: PAH: 143T>C; Leu48Ser
PubMed Link: 31164572
Variant Present in the following documents:
  • Main text
View BVdb publication page



The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records.

Molecular Genetics And Metabolism Reports
Lilleväli, Hardo H; Reinson, Karit K; Muru, Kai K; Saarsalu, Siret S; Künnapas, Kadi K; Kahre, Tiina T; Murumets, Ülle Ü; Õunap, Katrin K
Publication Date: 2019-06

Variant appearance in text: PAH: L48S
PubMed Link: 30963030
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: PAH: 143T>C; Leu48Ser
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.

Molecular Genetics & Genomic Medicine
Vieira Neto, Eduardo E; Laranjeira, Francisco F; Quelhas, Dulce D; Ribeiro, Isaura I; Seabra, Alexandre A; Mineiro, Nicole N; Carvalho, Lilian M LM; Lacerda, Lúcia L; Ribeiro, Márcia G MG
Publication Date: 2019-05

Variant appearance in text: PAH: 143T>C; L48S
PubMed Link: 30829006
Variant Present in the following documents:
  • Main text
  • MGG3-7-e610.pdf
View BVdb publication page



Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia.

Plos One
Gundorova, Polina P; Stepanova, Anna A AA; Kuznetsova, Irina A IA; Kutsev, Sergey I SI; Polyakov, Aleksander V AV
Publication Date: 2019

Variant appearance in text: PAH: 143T>C; Leu48Ser
PubMed Link: 30668579
Variant Present in the following documents:
  • Main text
  • pone.0211048.pdf
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: PAH: L48S; rs5030841
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.

Scientific Reports
Li, Nana N; He, Chunhua C; Li, Jing J; Tao, Jing J; Liu, Zhen Z; Zhang, Chunyan C; Yuan, Yuan Y; Jiang, Hui H; Zhu, Jun J; Deng, Ying Y; Guo, Yixiong Y; Li, Qintong Q; Yu, Ping P; Wang, Yanping Y
Publication Date: 2018-07-26

Variant appearance in text: PAH: L48S
PubMed Link: 30050108
Variant Present in the following documents:
  • 41598_2018_Article_29640.pdf
View BVdb publication page



Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.

Molecular Genetics & Genomic Medicine
Vieira Neto, Eduardo E; Laranjeira, Francisco F; Quelhas, Dulce D; Ribeiro, Isaura I; Seabra, Alexandre A; Mineiro, Nicole N; D M Carvalho, Lilian L; Lacerda, Lúcia L; G Ribeiro, Márcia M
Publication Date: 2018-05-10

Variant appearance in text: PAH: 143T>C; L48S
PubMed Link: 29749107
Variant Present in the following documents:
  • Main text
  • MGG3-6-575.pdf
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Genetics and genomic medicine in Tunisia.

Molecular Genetics & Genomic Medicine
Elloumi-Zghal, Houda H; Chaabouni Bouhamed, Habiba H
Publication Date: 2018-03

Variant appearance in text: PAH: 143T>C; Leu48Ser
PubMed Link: 29663716
Variant Present in the following documents:
  • Main text
  • MGG3-6-134.pdf
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Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: PAH: 143T>C; rs5030841
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
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Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening.

Jimd Reports
Lilleväli, Hardo H; Reinson, Karit K; Muru, Kai K; Simenson, Kristi K; Murumets, Ülle Ü; Möls, Tõnu T; Õunap, Katrin K
Publication Date: 2018

Variant appearance in text: PAH: 143T>C; Leu48Ser
PubMed Link: 28956315
Variant Present in the following documents:
  • Main text
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New protein structures provide an updated understanding of phenylketonuria.

Molecular Genetics And Metabolism
Jaffe, Eileen K EK
Publication Date: 2017-08

Variant appearance in text: PAH: L48S
PubMed Link: 28645531
Variant Present in the following documents:
  • Main text
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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PAH: 143T>C; Leu48Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria.

Molecular Genetics And Metabolism
Ney, Denise M DM; Murali, Sangita G SG; Stroup, Bridget M BM; Nair, Nivedita N; Sawin, Emily A EA; Rohr, Fran F; Levy, Harvey L HL
Publication Date: 2017-06

Variant appearance in text: PAH: L48S
PubMed Link: 28400091
Variant Present in the following documents:
  • Main text
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A statistical approach to detection of copy number variations in PCR-enriched targeted sequencing data.

Bmc Bioinformatics
Demidov, German G; Simakova, Tamara T; Vnuchkova, Julia J; Bragin, Anton A
Publication Date: 2016-10-22

Variant appearance in text: PAH: L48S
PubMed Link: 27770783
Variant Present in the following documents:
  • Main text
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Convert your favorite protein modeling program into a mutation predictor: "MODICT".

Bmc Bioinformatics
Tanyalcin, Ibrahim I; Stouffs, Katrien K; Daneels, Dorien D; Al Assaf, Carla C; Lissens, Willy W; Jansen, Anna A; Gheldof, Alexander A
Publication Date: 2016-10-19

Variant appearance in text: PAH: L48S
PubMed Link: 27760515
Variant Present in the following documents:
  • Main text
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Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids.

European Journal Of Clinical Nutrition
Concolino, D D; Mascaro, I I; Moricca, M T MT; Bonapace, G G; Matalon, K K; Trapasso, J J; Radhakrishnan, G G; Ferrara, C C; Matalon, R R; Strisciuglio, P P
Publication Date: 2017-01

Variant appearance in text: PAH: L48S
PubMed Link: 27623981
Variant Present in the following documents:
  • ejcn2016166a.pdf
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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: PAH: 143T>C; L48S; rs5030841
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
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Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial.

The American Journal Of Clinical Nutrition
Ney, Denise M DM; Stroup, Bridget M BM; Clayton, Murray K MK; Murali, Sangita G SG; Rice, Gregory M GM; Rohr, Frances F; Levy, Harvey L HL
Publication Date: 2016-08

Variant appearance in text: PAH: L48S
PubMed Link: 27413125
Variant Present in the following documents:
  • Main text
  • ajcn135293.pdf
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