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Up to date knowledge on different treatment strategies for phenylketonuria

  • Published:2011-01 Issue: Volume:104 Page:S19-S25
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Bélanger-Quintana Amaya,Burlina Alberto,Harding Cary O.,Muntau Ania C.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference93 articles.

1. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency;Scriver,2001

2. Excretion of conjugated phenylacetic acid in phenylketonuria;Woolf;Biochem. J.,1951

3. Influence of phenylalanine intake on phenylketonuria;Bickel;Lancet,1953

4. National institutes of health consensus development conference statement: phenylketonuria: screening and management;Pediatrics,2000

5. Suboptimal outcome in patients with PKU treated early with diet alone: revisiting the evidence;Enns;Mol. Genet. Metab.,2010

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1. Mutational landscape of phenylketonuria in Iran;Journal of Cellular and Molecular Medicine;2023-07-31

2. Enzyme Replacement Therapy for Genetic Disorders Associated with Enzyme Deficiency;Current Medicinal Chemistry;2022-01

3. Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022

4. Role of misfolding in rare enzymatic deficits and use of pharmacological chaperones as therapeutic approach;Frontiers in Bioscience-Landmark;2021-12-30

5. Production of low protein and gluten-free cookies for phenylketonuria (PKU) and/or celiac patients;Czech Journal of Food Sciences;2021-02-26
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