Works about PHENYLKETONURIA diagnosis

Results: 99

Correction: Donnelly et al. A Case of DNAJC12 -Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection. Int. J. Neonatal Screen. 2024, 10 , 7.

Published in:

2025

By:

Donnelly, Colleen;
Estrella, Lissette;
Ginevic, Ilona;
Ganesh, Jaya

Publication type:

Correction Notice

Resonancia magnética nuclear de encéfalo en pacientes con fenilcetonuria diagnosticada tardíamente.

Published in:

Acta Pediatrica de Mexico, 2015, v. 36, n. 1, p. 9

By:

Jiménez-Pérez, Mario O.;
Gómez-Garza, Gilberto;
Ruiz-García, Matilde;
Fernández-Lainez, Cynthia;
Ibarra-González, Isabel;
Vela-Amieva, Marcela

Publication type:

Article

Neuroimágenes en la fenilcetonuria (PKU).

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 288

By:

Cabello, Juan Francisco

Publication type:

Article

Los ácidos grasos poliinsaturados de cadena larga en hiperfenilalaninemias.

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 335

By:

Guillén-López, Sara;
Rodríguez-Schmidt, Romina;
Vela-Amieva, Marcela

Publication type:

Article

Experiencia con sapropterina en pacientes mexicanos con hiperfenilalaninemia.

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 331

By:

Monroy-Santoyo, Susana;
Belmont-Martínez, Leticia;
Fernández-Lainez, Cynthia;
Guillén-López, Sara;
Ibarra-González, Isabel;
Rodríguez-Schmidt, Romina;
Vela-Amieva, Marcela

Publication type:

Article

Aspectos generales y panorama actual del estudio molecular de la fenilcetonuria (PKU) en México.

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 324

By:

Alcántara-Ortigoza, Miguel Ángel;
García-de Teresa, Benilde;
Barrientos-Ríos, Rehotbevely;
González-del Ángel, Ariadna

Publication type:

Article

Modelo de atención de la fenilcetonuria (PKU) en Uruguay.

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 311

By:

Lemes, Aida;
Queijo, Cecilia;
Zabala, Cristina;
Queiruga, Graciela

Publication type:

Article

Modelo de atención de pacientes con fenilcetonuria (PKU) en Argentina.

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 308

By:

Chiesa, Ana;
Fraga, Claudia;
Prieto, Laura;
Pardo, María Laura

Publication type:

Article

Modelo chileno de seguimiento a largo plazo para fenilcetonuria (PKU).

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 301

By:

Cornejo, Verónica;
Castro, Gabriela;
Fernández, Eloina;
Cabello, Juan Francisco;
Raimann, Erna;
De la Parra, A.;
Katherine, Betta;
Arias, Carolina;
Peredo, Pilar;
Valiente, Alf;
Colombo, Marta

Publication type:

Article

Evaluación bioquímica de la fenilcetonuria (PKU): del diagnóstico al tratamiento.

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 6, p. 296

By:

Belmont-Martínez, Leticia;
Fernández-Lainez, Cynthia;
Ibarra-González, Isabel;
Guillén-López, Sara;
Monroy-Santoyo, Susana;
Vela-Amieva, Marcela

Publication type:

Article

Newborn Screening: From Guthrie to Whole Genome Sequencing.

Published in:

Public Health Reports, 2013, p. 14, doi. 10.1177/00333549131280S204

By:

CAGGANA, MICHELE;
JONES, ELIZABETH A.;
SHAHIED, S. I.;
TANKSLEY, SUSAN;
HERMERATH, CHERYL A.;
LUBIN, IRA M.

Publication type:

Article

Construction and evaluation of a novel bifunctional phenylalanine-formate dehydrogenase fusion protein for bienzyme system with cofactor regeneration.

Published in:

Journal of Industrial Microbiology & Biotechnology, 2016, v. 43, n. 5, p. 577, doi. 10.1007/s10295-016-1738-6

By:

Jiang, Wei;
Fang, Bai-Shan

Publication type:

Article

Status of newborn screening in southwest China.

Published in:

2015

By:

Liu, Hao;
Miao, Jingkun;
Yu, Chaowen;
Wan, Kexing;
Song, Lin;
Zhang, Juan;
Lv, Linya;
Bao, Liming;
Zou, Lin

Publication type:

Letter

Biosensor for L-phenylalanine based on the optical detection of NADH using a UV light emitting diode.

Published in:

Microchimica Acta, 2011, v. 173, n. 1/2, p. 199, doi. 10.1007/s00604-010-0536-5

By:

Arakawa, Takahiro;
Koshida, Tomoyuki;
Gessei, Tomoko;
Miyajima, Kumiko;
Takahashi, Daishi;
Kudo, Hiroyuki;
Yano, Kazuyoshi;
Mitsubayashi, Kohji

Publication type:

Article

Development of the US English version of the phenylketonuria - quality of life (PKU-QOL) questionnaire.

Published in:

2017

By:

Jurecki, Elaina;
Cunningham, Amy;
Birardi, Vanessa;
Gagol, Grégory;
Acquadro, Catherine

Publication type:

journal article

Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association?

Published in:

BMC Endocrine Disorders, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1472-6823-14-38

By:

Lucaccioni, Laura;
Schwahn, Bernd C.;
Donaldson, Malcolm;
Giacomozzi, Claudio

Publication type:

Article

International Survey on Phenylketonuria Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 18, doi. 10.3390/ijns11010018

By:

Trampuž, Domen;
Schielen, Peter C. J. I.;
Zetterström, Rolf H.;
Scarpa, Maurizio;
Feillet, François;
Kožich, Viktor;
Tangeraas, Trine;
Drole Torkar, Ana;
Mlinarič, Matej;
Perko, Daša;
Remec, Žiga Iztok;
Lampret, Barbka Repič;
Battelino, Tadej;
van Spronsen, Francjan J.;
Bonham, James R.;
Grošelj, Urh

Publication type:

Article

DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 74, doi. 10.3390/ijns10040074

By:

Wong, Tsz Sum;
Wong, Sheila Suet Na;
Kwok, Anne Mei Kwun;
Wu, Helen;
Law, Hiu Fung;
Lam, Shirley;
Yeung, Matthew Chun Wing;
Chan, Toby Chun Hei;
Leung, Gordon;
Mak, Chloe Miu;
Belaramani, Kiran Moti;
Fung, Cheuk Wing

Publication type:

Article

A Case of DNAJC12 -Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 7, doi. 10.3390/ijns10010007

By:

Donnelly, Colleen;
Estrella, Lissette;
Ginevic, Ilona;
Ganesh, Jaya

Publication type:

Article

Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 2, doi. 10.3390/ijns10010002

By:

Cantley, Nathan W. P.;
Barski, Robert;
Kemp, Helena;
Hogg, Sarah L.;
Wu, Hoi Yee Teresa;
Bowron, Ann;
Collingwood, Catherine;
Cundick, Jennifer;
Hart, Claire;
Shakespeare, Lynette;
Preece, Mary Anne;
Aitkenhead, Helen;
Smith, Sarah;
Carling, Rachel S.;
Moat, Stuart J.

Publication type:

Article

Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 39, doi. 10.3390/ijns9030039

By:

Konomura, Keiko;
Hoshino, Eri;
Sakai, Kotomi;
Fukuda, Takashi;
Tajima, Go

Publication type:

Article

TOWARD A WIDER VIEW.

Published in:

British Journal of Occupational Therapy, 1980, v. 43, n. 10, p. 343, doi. 10.1177/030802268004301011

By:

Agag

Publication type:

Article

Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles.

Published in:

Iranian Journal of Medical Sciences, 2018, v. 43, n. 3, p. 318

By:

Alibakhshi, Reza;
Moradi, Keivan;
Biglari, Mostafa;
Shafieenia, Samaneh

Publication type:

Article

The spectrum of mutations in the PAH gene in patients with hyperphenylalaninemia from the Karachay-Cherkess Republic.

Published in:

Russian Journal of Genetics, 2017, v. 53, n. 7, p. 813, doi. 10.1134/S1022795417070043

By:

Gundorova, P.;
Zinchenko, R.;
Makaov, A.;
Polyakov, A.

Publication type:

Article

Proposed Guidelines for Screening of Metabolic and Endocrine Diseases of Dependent Neonates of the U.S. Armed Forces.

Published in:

Clinical Pediatrics, 1987, v. 26, n. 7, p. 349, doi. 10.1177/000992288702600705

By:

Tiwary, Chandra M.

Publication type:

Article

Adult-onset phenylketonuria with rapidly progressive dementia and parkinsonism.

Published in:

2016

By:

Tufekcioglu, Zeynep;
Cakar, Arman;
Bilgic, Basar;
Hanagasi, Hasmet;
Gurvit, Hakan;
Emre, Murat

Publication type:

journal article

Musty odour, mental retardation, and spastic paraplegia revealing phenylketonuria in adulthood.

Published in:

2010

By:

Jousserand, Guillemette;
Antoine, Jean-Christophe;
Camdessanché, Jean-Philippe

Publication type:

Letter

FENILCETONÚRIA: UMA REVISÃO DE LITERATURA.

Published in:

Electronic Journal of Pharmacy / Revista Eletrônica de Farmácia, 2014, v. 11, n. 4, p. 27, doi. 10.5216/ref.v11i4.31258

By:

Porto Ascenso Rosa, Ruy Roberto

Publication type:

Article

The balance between privacy, safety and community health.

Published in:

2003

By:

Williamson, R.

Publication type:

commentary

Rare health conditions 4: acromegaly, Usher syndrome, phenylketonuria (PKU).

Published in:

British Journal of Healthcare Assistants, 2017, v. 11, n. 9, p. 430, doi. 10.12968/bjha.2017.11.9.430

By:

Barber, Chris

Publication type:

Article

Impact of two-way texting for refill reminders and refill set-up on a phenylketonuria (PKU) patient population.

Published in:

Journal of Drug Assessment, 2018, v. 7, p. 18, doi. 10.1080/21556660.2018.1521079

By:

Snyder, M.;
Sager, B.;
Ill, S.;
Lachner, N.;
Allen, D.;
Peterson, J.;
Budlong, H.

Publication type:

Article

The Prevalence and Incidence of Congenital Phenylketonuria in 59 Countries: A Systematic Review.

Published in:

Journal of Pediatrics Review, 2021, v. 9, n. 2, p. 83, doi. 10.32598/jpr.9.2.826.2

By:

Mojibi, Nastaran;
Ghazanfari-Sarabi, Shabnam;
Bagher Hashemi-Soteh, Seyed Mohammad

Publication type:

Article

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

Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.

Published in:

1999

By:

Burgard, P.;
Bremer, H. J.;
Bührdel, P.;
Clemens, P. C.;
Mönch, E.;
Przyrembel, H.;
Trefz, F. K.;
Ullrich, K.;
Bührdel, P;
Mönch, E

Publication type:

journal article

Neonatal Screening for Phenylketonuria.

Published in:

American Journal of Public Health, 1974, v. 64, n. 8, p. 775

By:

Holtzman, Neil A.;
Meek, Allen G.;
Mellits, E. David

Publication type:

Article

After 50 Years, Newborn Screening Continues to Yield Public Health Gains.

Published in:

JAMA: Journal of the American Medical Association, 2013, v. 309, n. 12, p. 1215, doi. 10.1001/jama.2013.2087

By:

Kuehn, Bridget M.

Publication type:

Article

Effect of early discharge on phenylketonuria screening.

Published in:: 1996
Publication type:: Abstract

Newborn infants' cry after heel-prick: analysis with sound spectrogram.

Published in:

2000

By:

Runefors, P;
Arnbjörnsson, E;
Elander, G;
Michelsson, K;
Arnbjörnsson, E

Publication type:

journal article

Screening for neonatal hyperbilirubinaemia and ABO alloimmunization at the time of testing for phenylketonuria and congenital hypothyreosis.

Published in:

1998

By:

Meberg, A;
Johansen, KB;
Johansen, K B

Publication type:

journal article

Decreased trabecular bone mineral density in patients with phenylketonuria measured by peripheral quantitative computed tomography.

Published in:

1998

By:

Schwahn, B.;
Mokov, E.;
Scheidhauer, K.;
Lettgen, B.;
Schönau, E.;
Schönau, E

Publication type:

journal article

Antioxidant treatment strategies for hyperphenylalaninemia.

Published in:

Metabolic Brain Disease, 2013, v. 28, n. 4, p. 541, doi. 10.1007/s11011-013-9414-2

By:

Mazzola, Priscila;
Karikas, George;
Schulpis, Kleopatra;
Dutra-Filho, Carlos

Publication type:

Article

COMPARISON OF PLASMA PHENYLALANINE DETERMINATION BY DENSITOMETRY OF THIN-LAYER CHROMATOGRAMS AND BY HIGH PERFORMANCE LIQUID CHROMATOGRAPHY IN RELATION WITH THE SCREENING OF PHENYLKETONURIA.

Published in:

Acta Endocrinologica (1841-0987), 2017, v. 13, n. 2, p. 203, doi. 10.4183/aeb.2017.203

By:

Mihali, C. V.;
Petrescu, M. C.;
Mândruţiu, I.;
Bechet, D.;
Nistor, T. V.;
Turcuş, V.;
Ardelean, A.;
Benga, Gh.

Publication type:

Article

Magnetic resonance neuroimaging in phenylketonuria.

Published in:

British Journal of Hospital Medicine (17508460), 2019, v. 80, n. 7, p. i, doi. 10.12968/hmed.2019.80.7.i

By:

Todaro, V;
Larner, AJ

Publication type:

Article

Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening.

Published in:

2011

By:

Nagasaka, Hironori;
Tsukahara, Hirokazu;
Takatani, Tomozumi;
Sanayama, Yoshitami;
Takayanagi, Masaki;
Ohura, Toshihiro;
Sakamoto, Osamu;
Ito, Tetsuya;
Wada, Mika;
Yoshino, Makoto;
Ohtake, Akira;
Yorifuji, Tohru;
Hirayama, Satoshi;
Miida, Takashi;
Fujimoto, Hiroki;
Mochizuki, Hiroshi;
Hattori, Toshikazu;
Okano, Yoshiyuki

Publication type:

journal article

Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review.

Published in:

Children, 2023, v. 10, n. 4, p. 727, doi. 10.3390/children10040727

By:

Sur, Lucia Maria;
Mager, Monica Alina;
Bolunduţ, Alexandru-Cristian;
Trifa, Adrian-Pavel;
Anton-Păduraru, Dana Teodora

Publication type:

Article

Food Habits and Lifestyle in Hyperphenylalaninemia Patients: Should These Be Monitored?

Published in:

Children, 2022, v. 9, n. 8, p. 1164, doi. 10.3390/children9081164

By:

Dicintio, Annamaria;
Paterno, Giulia;
Carella, Rosa;
Ortolani, Federica;
Masciopinto, Maristella;
De Giovanni, Donatella;
Tummolo, Albina

Publication type:

Article

Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitioners.

Published in:

Journal for Specialists in Pediatric Nursing, 2021, v. 26, n. 1, p. 1, doi. 10.1111/jspn.12312

By:

Lowe, Tracy B.;
DeLuca, Jane;
Arnold, Georgianne

Publication type:

Article

Phenylketonuria and other hyperphenylalaninemias.

Published in:: Anaesthesiologie & Intensivmedizin, 2023, v. 64, p. S295, doi. 10.19224/ai2023.S295
Publication type:: Article

Genotype–Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.

Published in:

Nutrients, 2025, v. 17, n. 3, p. 379, doi. 10.3390/nu17030379

By:

Consentino, Maria Chiara;
La Spina, Luisa;
Meli, Concetta;
Messina, Marianna;
Lo Bianco, Manuela;
Sapuppo, Annamaria;
Pappalardo, Maria Grazia;
Iacobacci, Riccardo;
Arena, Alessia;
Vecchio, Michele;
Ruggieri, Martino;
Polizzi, Agata;
Praticò, Andrea Domenico

Publication type:

Article

Evaluation of a New Glycomacropeptide-Based Protein Substitute in Powdered and Liquid Format in Patients with PKU.

Published in:

Nutrients, 2023, v. 15, n. 16, p. 3580, doi. 10.3390/nu15163580

By:

Delsoglio, Marta;
Capener, Rebecca;
MacDonald, Anita;
Daly, Anne;
Ashmore, Catherine;
Ellerton, Charlotte;
Donald, Sarah;
Gaff, Lisa;
VanDorp, Louise;
Skeath, Rachel;
Newby, Camille;
Dunning, Georgina;
Dale, Clare;
Hunjan, Inderdip;
White, Lucy;
Allen, Heather;
Hubbard, Gary P.;
Stratton, Rebecca J.

Publication type:

Article