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Nestle Nutrition Workshop Series. Paediatric Programme
|
July 16, 2008
Newborn screening of metabolic disorders: recent progress and future developments
Piero Rinaldo, James S Lim, Silvia Tortorelli, et al.
Genetics in Medicine Open
|
February 13, 2025
College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance
Kristina Cusmano-Ozog, Dietrich Matern, Thomas Long, et al.
Plos One
|
November 1, 2012
Carnitine deficiency in OCTN2-/- newborn mice leads to a severe gut and immune phenotype with widespread atrophy, apoptosis and a pro-inflammatory response
Srinivas Sonne, Prem S Shekhawat, Dietrich Matern, et al.
Human Gene Therapy
|
July 22, 2014
Effects of adeno-associated virus serotype and tissue-specific expression on circulating biomarkers of propionic acidemia
Adam J Guenzel, Matthew L Hillestad, Dietrich Matern, et al.
European Journal of Pediatrics
|
October 10, 2002
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation
Dietrich Matern, Hans Hermann Seydewitz, Deeksha Bali, et al.
Seminars in Perinatology
|
April 21, 2015
Newborn screening for lysosomal storage disorders
Dietrich Matern, Dimitar Gavrilov, Devin Oglesbee, et al.
The Journal of Allergy and Clinical Immunology. in Practice
|
July 5, 2023
Incorrect laboratory test selection is common in the evaluation of alpha-gal syndrome and Fabry disease
Gisele Bentz Pino, Amy Piazza, Matthew Schultz, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
January 22, 2009
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy
J Lawrence Merritt, Tien Nguyen, Jan Daniels, et al.
Molecular Genetics and Metabolism
|
September 15, 2020
Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD
Gabriela Elizondo, Dietrich Matern, Jerry Vockley, et al.
Journal of Crohn'S & Colitis
|
September 25, 2012
Enzymes involved in L-carnitine biosynthesis are expressed by small intestinal enterocytes in mice: implications for gut health
Prem S Shekhawat, Srinivas Sonne, A Lee Carter, et al.
Page
of 16
Search research articles
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Showing results (21-30 of 152) with videos related to
Sort By:
Page
of 16
Nestle Nutrition Workshop Series. Paediatric Programme
|
July 16, 2008
Newborn screening of metabolic disorders: recent progress and future developments
Piero Rinaldo, James S Lim, Silvia Tortorelli, et al.
Genetics in Medicine Open
|
February 13, 2025
College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance
Kristina Cusmano-Ozog, Dietrich Matern, Thomas Long, et al.
Plos One
|
November 1, 2012
Carnitine deficiency in OCTN2-/- newborn mice leads to a severe gut and immune phenotype with widespread atrophy, apoptosis and a pro-inflammatory response
Srinivas Sonne, Prem S Shekhawat, Dietrich Matern, et al.
Human Gene Therapy
|
July 22, 2014
Effects of adeno-associated virus serotype and tissue-specific expression on circulating biomarkers of propionic acidemia
Adam J Guenzel, Matthew L Hillestad, Dietrich Matern, et al.
European Journal of Pediatrics
|
October 10, 2002
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation
Dietrich Matern, Hans Hermann Seydewitz, Deeksha Bali, et al.
Seminars in Perinatology
|
April 21, 2015
Newborn screening for lysosomal storage disorders
Dietrich Matern, Dimitar Gavrilov, Devin Oglesbee, et al.
The Journal of Allergy and Clinical Immunology. in Practice
|
July 5, 2023
Incorrect laboratory test selection is common in the evaluation of alpha-gal syndrome and Fabry disease
Gisele Bentz Pino, Amy Piazza, Matthew Schultz, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
January 22, 2009
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy
J Lawrence Merritt, Tien Nguyen, Jan Daniels, et al.
Molecular Genetics and Metabolism
|
September 15, 2020
Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD
Gabriela Elizondo, Dietrich Matern, Jerry Vockley, et al.
Journal of Crohn'S & Colitis
|
September 25, 2012
Enzymes involved in L-carnitine biosynthesis are expressed by small intestinal enterocytes in mice: implications for gut health
Prem S Shekhawat, Srinivas Sonne, A Lee Carter, et al.
Page
of 16