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Academic Journal

The struggle that is phenylketonuria: What do the patients and caregivers suffer from.

  • Authors : Demirel D; Department of Pediatrics, Hacettepe University, Ankara, Turkey.; Sivri S

Subjects: Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/psychology ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/blood ; Stress, Psychological*/Stress, Psychological*/Stress, Psychological*/psychology

  • Source: Medicine [Medicine (Baltimore)] 2024 Jun 21; Vol. 103 (25), pp. e38678.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels.

Subjects: Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/blood ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/pathology ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/diagnostic imaging

  • Source: Journal of neurodevelopmental disorders [J Neurodev Disord] 2024 Jun 21; Vol. 16 (1), pp. 33. Date of Electronic Publication: 2024 Jun 21.Publisher: BioMed Central Country of Publication: England NLM ID: 101483832 Publication Model: Electronic Cited Medium: Internet ISSN: 1866-1955

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Academic Journal

[Analysis of PAH gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria].

  • Authors : Chai Y; Department of Medical Genetics and Prenatal Diagnosis, Luoyang Maternal and Child Health Care Hospital, Luoyang, Henan 471000, China. .; Ning H

Subjects: Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/genetics ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/diagnosis ; Prenatal Diagnosis*

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Jun 10; Vol. 41 (6), pp. 702-707.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.

  • Authors : Martínez-Pizarro A; Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Nicolás Cabrera 1, 28049 Madrid, Spain.; Instituto Universitario de Biología Molecular, UAM, Nicolás Cabrera 1, 28049 Madrid, Spain.

Subjects: Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/genetics ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/pathology ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/metabolism

  • Source: Human molecular genetics [Hum Mol Genet] 2024 Jun 05; Vol. 33 (12), pp. 1074-1089.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Insurance Reimbursement for Special Foods and Phenylalanine Levels in Patients With PKU in China.

  • Authors : Wang B; College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, PR China.; Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, PR China.

Subjects: Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/blood ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/economics ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/diet therapy

  • Source: JAMA network open [JAMA Netw Open] 2024 Jun 03; Vol. 7 (6), pp. e2412886. Date of Electronic Publication: 2024 Jun 03.Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet

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Academic Journal

Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuria.

  • Authors : Veleva D; StemCore, The Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, St Lucia, QLD, Australia.; Ay M

Subjects: Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/metabolism ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/pathology

  • Source: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103405. Date of Electronic Publication: 2024 Mar 28.Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753

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Academic Journal

Generation of two lymphoblastoid-derived induced pluripotent stem cell (iPSC) lines from patients with phenylketonuria.

  • Authors : Veleva D; StemCore, The Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, St Lucia, QLD, Australia.; Ay M

Subjects: Kruppel-Like Factor 4* ; Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/metabolism

  • Source: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103407. Date of Electronic Publication: 2024 Mar 24.Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753

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Academic Journal

Emerging biosensors in Phenylketonuria.

  • Authors : Shyam R; University Institute of Pharma Sciences, Chandigarh University, Gharuan, Mohali, Punjab 140413, India.; Sekhar Panda H

Subjects: Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/diagnosis ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/metabolism ; Biosensing Techniques*/Biosensing Techniques*/Biosensing Techniques*/methods

  • Source: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Jun 01; Vol. 559, pp. 119725. Date of Electronic Publication: 2024 May 09.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria in Turkey.

  • Authors : Karaca Sahin M; Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, 34098 Istanbul, Turkey.; Aktuglu Zeybek AC

Subjects: Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/economics ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/diet therapy ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/drug therapy

  • Source: Nutrients [Nutrients] 2024 May 10; Vol. 16 (10). Date of Electronic Publication: 2024 May 10.Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye.

  • Authors : Alavanda C; Department of Medical Genetics, Van Research and Training Hospital, Van, Türkiye.; Ceylan Eİ

Subjects: Phenylalanine Hydroxylase*/Phenylalanine Hydroxylase*/Phenylalanine Hydroxylase*/genetics ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/genetics ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/blood

  • Source: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2024 May 07; Vol. 37 (6), pp. 543-552. Date of Electronic Publication: 2024 May 07 (Print Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN:

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  • 1-10 of  7,493 results for ""Phenylketonurias""