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Elife
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March 25, 2020
Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria
Tracy L McGregor, Karen A Hunt, Elaine Yee, et al.
Hepatology (Baltimore, Md.)
|
November 23, 2020
Bile Acid Profiles in Primary Sclerosing Cholangitis and Their Ability to Predict Hepatic Decompensation
Omar Y Mousa, Brian D Juran, Bryan M McCauley, et al.
Elife
|
November 21, 2022
Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality
Ankit Sabharwal, Mark D Wishman, Roberto Lopez Cervera, et al.
Annals of Neurology
|
October 15, 2021
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications
Anna N Ligezka, Silvia Radenkovic, Mayank Saraswat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 25, 2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease
Adam J Guenzel, Coleman T Turgeon, Kim K Nickander, et al.
Human Mutation
|
July 12, 2016
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma
Patrick R Blackburn, Raymond D Hickey, Rebecca A Nace, et al.
Neurology
|
November 12, 2025
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy
Jordan Elliott Bontrager, Amy L White, Karlla W Brigatti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 7, 2012
Enhanced interpretation of newborn screening results without analyte cutoff values
Gregg Marquardt, Robert Currier, David M S McHugh, 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 10
Search research articles
Search
Showing results (91-100 of 99) with videos related to
Sort By:
Page
of 10
You have reached the last page of results.
This site can display upto 99 results.
Elife
|
March 25, 2020
Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria
Tracy L McGregor, Karen A Hunt, Elaine Yee, et al.
Hepatology (Baltimore, Md.)
|
November 23, 2020
Bile Acid Profiles in Primary Sclerosing Cholangitis and Their Ability to Predict Hepatic Decompensation
Omar Y Mousa, Brian D Juran, Bryan M McCauley, et al.
Elife
|
November 21, 2022
Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality
Ankit Sabharwal, Mark D Wishman, Roberto Lopez Cervera, et al.
Annals of Neurology
|
October 15, 2021
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications
Anna N Ligezka, Silvia Radenkovic, Mayank Saraswat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 25, 2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease
Adam J Guenzel, Coleman T Turgeon, Kim K Nickander, et al.
Human Mutation
|
July 12, 2016
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma
Patrick R Blackburn, Raymond D Hickey, Rebecca A Nace, et al.
Neurology
|
November 12, 2025
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy
Jordan Elliott Bontrager, Amy L White, Karlla W Brigatti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 7, 2012
Enhanced interpretation of newborn screening results without analyte cutoff values
Gregg Marquardt, Robert Currier, David M S McHugh, 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 10