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Annals of Clinical Biochemistry
|
August 14, 2025
Kidney stone analysis may miss diagnoses as demonstrated by a case of adenine phosphoribosyl transferase deficiency
Roger Bramley, Daniel Herrera, Robert Barski, et al.
BMJ (Clinical Research Ed.)
|
July 17, 2013
Stroke in a young man
Deepa Narayanan, Ahai Luvai, Robert Barski, et al.
Pediatric Dermatology
|
October 3, 2019
A novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency
Bevin Bhoyrul, David Wright, Lesley Heptinstall, et al.
Annals of Clinical Biochemistry
|
October 8, 2013
Delayed diagnosis of phenylketonuria - a case report of two siblings
Deepa Narayanan, Robert Barski, Mick J Henderson, et al.
Annals of Clinical Biochemistry
|
February 10, 2023
Cross-sectional audit assessing the quality of dried bloodspot specimens received by UK metabolic biochemistry laboratories for the biochemical monitoring of individuals with Phenylketonuria
Sarah L Hogg, Rachel S Carling, Nathan Wp Cantley, et al.
International Journal of Neonatal Screening
|
January 22, 2024
Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach
Nathan W P Cantley, Robert Barski, Helena Kemp, et al.
International Journal of Neonatal Screening
|
June 25, 2026
Transitioning from Laboratory-Developed Tests to a Single Commercial Reagent Kit in a National Newborn Screening Program: Impact on Analytical Performance and Harmonization
Rachel S Carling, Zoe J Barclay, Sophie C Ward, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 7) with videos related to
Sort By:
Page
of 1
Annals of Clinical Biochemistry
|
August 14, 2025
Kidney stone analysis may miss diagnoses as demonstrated by a case of adenine phosphoribosyl transferase deficiency
Roger Bramley, Daniel Herrera, Robert Barski, et al.
BMJ (Clinical Research Ed.)
|
July 17, 2013
Stroke in a young man
Deepa Narayanan, Ahai Luvai, Robert Barski, et al.
Pediatric Dermatology
|
October 3, 2019
A novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency
Bevin Bhoyrul, David Wright, Lesley Heptinstall, et al.
Annals of Clinical Biochemistry
|
October 8, 2013
Delayed diagnosis of phenylketonuria - a case report of two siblings
Deepa Narayanan, Robert Barski, Mick J Henderson, et al.
Annals of Clinical Biochemistry
|
February 10, 2023
Cross-sectional audit assessing the quality of dried bloodspot specimens received by UK metabolic biochemistry laboratories for the biochemical monitoring of individuals with Phenylketonuria
Sarah L Hogg, Rachel S Carling, Nathan Wp Cantley, et al.
International Journal of Neonatal Screening
|
January 22, 2024
Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach
Nathan W P Cantley, Robert Barski, Helena Kemp, et al.
International Journal of Neonatal Screening
|
June 25, 2026
Transitioning from Laboratory-Developed Tests to a Single Commercial Reagent Kit in a National Newborn Screening Program: Impact on Analytical Performance and Harmonization
Rachel S Carling, Zoe J Barclay, Sophie C Ward, et al.
Page
of 1