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Journal of Inherited Metabolic Disease
|
September 14, 2010
Newborn screening-progress and challenges
Georg F Hoffmann, Veronica Cornejo, Rodney J Pollitt
Human Mutation
|
April 26, 2020
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia
Diana Gallego, Fátima Leal, Alejandra Gámez, et al.
Nutrients
|
August 27, 2021
Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey
Soraia Poloni, Bruna Bento Dos Santos, Ana Chiesa, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2022
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2011
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
David M S McHugh, Cynthia A Cameron, Jose E Abdenur, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 5) with videos related to
Sort By:
Page
of 1
Journal of Inherited Metabolic Disease
|
September 14, 2010
Newborn screening-progress and challenges
Georg F Hoffmann, Veronica Cornejo, Rodney J Pollitt
Human Mutation
|
April 26, 2020
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia
Diana Gallego, Fátima Leal, Alejandra Gámez, et al.
Nutrients
|
August 27, 2021
Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey
Soraia Poloni, Bruna Bento Dos Santos, Ana Chiesa, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2022
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2011
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
David M S McHugh, Cynthia A Cameron, Jose E Abdenur, et al.
Page
of 1