Works matching DE "PHENYLKETONURIA"

Results: 1039
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    Phenylketonuria Patients and Recent Approaches.

    Published in:
    Human, Health & Halal Metrics, 2022, v. 3, n. 2, p. 37, doi. 10.30502/JHHHM.2022.377288.1064
    By:
    • Khosravi-Darani, Kianoush;
    • Hassanpour, Samira;
    • Hashempour-Baltork, Fataneh
    Publication type:
    Article
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    Phenylketonuria patients' and their parents' acceptance of the disease: multi-centre study.

    Published in:
    2016
    By:
    • Witalis, Ewa;
    • Mikoluc, Bożena;
    • Motkowski, Radoslaw;
    • Szyszko, Justyna;
    • Chrobot, Agnieszka;
    • Didycz, Bozena;
    • Lange, Agata;
    • Mozrzymas, Renata;
    • Milanowski, Andrzej;
    • Nowacka, Maria;
    • Piotrowska-Depta, Mariola;
    • Romanowska, Hanna;
    • Starostecka, Ewa;
    • Wierzba, Jolanta;
    • Skorniewska, Magdalena;
    • Wojcicka-Bartlomiejczyk, Barbara;
    • Gizewska, Maria;
    • Mikoluc, Bożena;
    • Wojcicka-Bartlomiejczyk, Barbara Iwona;
    • Polish Society of Phenylketonuria
    Publication type:
    journal article
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    Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.

    Published in:
    Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 7, p. 1, doi. 10.1002/mgg3.1959
    By:
    • Nguyen, Tat‐Thanh;
    • Le, Quang‐Thanh;
    • Hoang, Diem‐Tuyet Thi;
    • Du Nguyen, Huu;
    • Ha, Thi Minh Thi;
    • Nguyen, My‐Nhi Ba;
    • Ta, Thanh‐Thuy Thi;
    • Tran, Nhat Thang;
    • Trinh, Thu Huong Nhat;
    • Doan, Kim Phuong Thi;
    • Lam, Duc Tam;
    • Tran, Son Tra Thi;
    • Nguyen, Thanh Xuan;
    • Le, Hong‐Thinh;
    • Ha, Van Tuan;
    • Nguyen, Manh Hoan;
    • Le, Ba‐Liem Kim;
    • Duong, My Linh;
    • Pham, Trung Ha;
    • Tran, Anh Tuan
    Publication type:
    Article
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    Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1559
    By:
    • Ferreira, Filipa;
    • Azevedo, Luísa;
    • Neiva, Raquel;
    • Sousa, Carmen;
    • Fonseca, Helena;
    • Marcão, Ana;
    • Rocha, Hugo;
    • Carmona, Célia;
    • Ramos, Sónia;
    • Bandeira, Anabela;
    • Martins, Esmeralda;
    • Campos, Teresa;
    • Rodrigues, Esmeralda;
    • Garcia, Paula;
    • Diogo, Luísa;
    • Ferreira, Ana Cristina;
    • Sequeira, Silvia;
    • Silva, Francisco;
    • Rodrigues, Luísa;
    • Gaspar, Ana
    Publication type:
    Article
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    Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry.

    Published in:
    BioMed Research International, 2019, p. 1, doi. 10.1155/2019/3460902
    By:
    • Sarker, Suprovath Kumar;
    • Islam, Md Tarikul;
    • Biswas, Aparna;
    • Bhuyan, Golam Sarower;
    • Sultana, Rosy;
    • Sultana, Nusrat;
    • Rakhshanda, Shagoofa;
    • Begum, Mst. Noorjahan;
    • Rahat, Asifuzzaman;
    • Yeasmin, Sharmina;
    • Khanam, Mowshori;
    • Saha, Asim Kumar;
    • Noor, Farjana Akther;
    • Sajib, Abu A.;
    • Islam, Abul B. M. M. K.;
    • Qadri, Syeda Kashfi;
    • Shahidullah, Mohammod;
    • Mannan, Mohammad Abdul;
    • Muraduzzaman, A. K. M.;
    • Shirin, Tahmina
    Publication type:
    Article
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    Phenylketonuria Diet Promotes Shifts in Firmicutes Populations.

    Published in:
    Frontiers in Cellular & Infection Microbiology, 2019, v. 9, p. N.PAG, doi. 10.3389/fcimb.2019.00101
    By:
    • Bassanini, Giulia;
    • Ceccarani, Camilla;
    • Borgo, Francesca;
    • Severgnini, Marco;
    • Rovelli, Valentina;
    • Morace, Giulia;
    • Verduci, Elvira;
    • Borghi, Elisa
    Publication type:
    Article
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    Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.

    Published in:
    2016
    By:
    • Giżewska, Maria;
    • MacDonald, Anita;
    • Bélanger-Quintana, Amaya;
    • Burlina, Alberto;
    • Cleary, Maureen;
    • Coşkun, Turgay;
    • Feillet, François;
    • Muntau, Ania;
    • Trefz, Friedrich;
    • Spronsen, Francjan;
    • Blau, Nenad;
    • Giżewska, Maria;
    • Bélanger-Quintana, Amaya;
    • Coşkun, Turgay;
    • Feillet, François;
    • Muntau, Ania C;
    • Trefz, Friedrich K;
    • van Spronsen, Francjan J
    Publication type:
    journal article
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    New insights in growth of phenylketonuric patients.

    Published in:
    European Journal of Pediatrics, 2015, v. 174, n. 5, p. 651, doi. 10.1007/s00431-014-2446-8
    By:
    • Couce, María;
    • Guler, Ipek;
    • Anca-Couce, Andrés;
    • Lojo, Marta;
    • Mirás, Alicia;
    • Leis, Rosaura;
    • Pérez-Muñuzuri, Alejandro;
    • Fraga, José;
    • Gude, Francisco
    Publication type:
    Article
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    Down's Syndrome with Phenylketonuria.

    Published in:
    Clinical Pediatrics, 1968, v. 7, n. 4, p. 226, doi. 10.1177/000992286800700413
    By:
    • Fisch, Robert O.;
    • Horrobin, J. Margaret
    Publication type:
    Article
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