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Academic Journal

The investigation of aromatic acids in phenylketonuria, alkaptonuria and tyrosinosis using gas-liquid chromatography.

Subjects: Alkaptonuria/Alkaptonuria/Alkaptonuria/*urine ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*urine ; Hippurates/Hippurates/Hippurates/*urine

  • Source: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 1972 Mar; Vol. 37, pp. 455-62.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print Cited Medium: Print ISSN: 0009-8981 (Print)

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Academic Journal

INBORN ERRORS OF METABOLISM.

Subjects: Alkaptonuria* ; Amino Acid Metabolism, Inborn Errors* ; Carbohydrate Metabolism*

  • Source: Journal of the American Dietetic Association [J Am Diet Assoc] 1965 Apr; Vol. 46, pp. 280-4.Publisher: Elsevier Country of Publication: United States NLM ID: 7503061 Publication Model: Print Cited Medium: Print ISSN: 0002-8223 (Print)

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Academic Journal

[Hereditary enzyme defects of amino acid metabolism].

Subjects: Albinism* ; Alkaptonuria* ; Maple Syrup Urine Disease*

  • Source: Ergebnisse der inneren Medizin und Kinderheilkunde [Ergeb Inn Med Kinderheilkd] 1962; Vol. 18, pp. 1-46.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0370703 Publication Model: Print Cited Medium: Print ISSN: 0071-111X (Print)

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Academic Journal

Optimization and validation of a bioanalytical HPLC-UV technique for simultaneous determination of underivatized phenylalanine and tyrosine in the blood for phenylketonuria diagnosis and monitoring.

  • Authors : Rabti H; Laboratory of Cardiovascular Diseases with Genetic and Nutritional Origin (LMCGN), Ferhat Abbas-Setif 1 University, Setif, Algeria.; Department of Pharmaceutical Engineering, Faculty of Process Engineering, Salah Boubnider-Constantine 3 University, Constantine, Algeria.

Subjects: Tyrosine* ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/diagnosis; Humans

  • Source: Biomedical chromatography : BMC [Biomed Chromatogr] 2024 Jan; Vol. 38 (1), pp. e5758. Date of Electronic Publication: 2023 Oct 05.Publisher: Wiley Country of Publication: England NLM ID: 8610241 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0801

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Academic Journal

What are the effects of tyrosine supplementation for people with phenylketonuria? A Cochrane Review summary with commentary.

  • Authors : Liguori S; Department of Medical and Surgical Specialties and Dentistry, University of Campania 'Luigi Vanvitelli', Naples, Italy.

Subjects: Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/drug therapy ; Tyrosine*; Dietary Supplements

  • Source: Developmental medicine and child neurology [Dev Med Child Neurol] 2022 Jul; Vol. 64 (7), pp. 815-817. Date of Electronic Publication: 2022 Mar 18.Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749

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Academic Journal

Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria.

  • Authors : van Wegberg A; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, the Netherlands.; Evers R

Subjects: Biopterins/Biopterins/Biopterins/*analogs & derivatives ; Phenylalanine/Phenylalanine/Phenylalanine/*blood ; Phenylalanine Hydroxylase/Phenylalanine Hydroxylase/Phenylalanine Hydroxylase/*genetics

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2021 May; Vol. 133 (1), pp. 49-55. Date of Electronic Publication: 2021 Mar 06.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Tyrosine supplementation for phenylketonuria.

  • Authors : Remmington T; Department of Women's and Children's Health, University of Liverpool, Liverpool, UK.; Smith S

Subjects: Dietary Supplements*; Phenylketonurias/Phenylketonurias/Phenylketonurias/*drug therapy ; Tyrosine/Tyrosine/Tyrosine/*therapeutic use

  • Source: The Cochrane database of systematic reviews [Cochrane Database Syst Rev] 2021 Jan 04; Vol. 1. Cochrane AN: CD001507. Date of Electronic Publication: 2021 Jan 04.Publisher: Wiley Country of Publication: England NLM ID: 100909747 Publication Model: Electronic Cited Medium: Internet ISSN: 1469-493X

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Academic Journal

Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet.

  • Authors : Vernon HJ; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Manoli I

Subjects: Albinism/Albinism/Albinism/*therapy ; Alkaptonuria/Alkaptonuria/Alkaptonuria/*therapy ; Cystinuria/Cystinuria/Cystinuria/*therapy Pentosuria

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Nov; Vol. 185 (11), pp. 3350-3358. Date of Electronic Publication: 2021 Jun 24.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria.

  • Authors : Porta F; Department of Pediatrics, University of Torino, Torino, Italy.; Giorda S

Subjects: Dietary Supplements* ; Homeostasis*; Amino Acids/Amino Acids/Amino Acids/*administration & dosage

  • Source: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2020 Nov 19; Vol. 33 (12), pp. 1519-1523. Date of Electronic Publication: 2020 Nov 19 (Print Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN:

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Academic Journal

Large Neutral Amino Acid Therapy Increases Tyrosine Levels in Adult Patients with Phenylketonuria: A Long-Term Study.

  • Authors : Burlina AP; Neurology Unit, San Bassiano Hospital, 36061 Bassano del Grappa, Italy. .; Cazzorla C

Subjects: Amino Acids, Neutral/Amino Acids, Neutral/Amino Acids, Neutral/*therapeutic use ; Phenylalanine/Phenylalanine/Phenylalanine/*blood ; Phenylketonurias/Phenylketonurias/Phenylketonurias/*blood

  • Source: Nutrients [Nutrients] 2019 Oct 21; Vol. 11 (10). Date of Electronic Publication: 2019 Oct 21.Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  225 results for ""Phenylketonurias""