Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Piero Rinaldo

Showing results (81-90 of 100) with videos related to

Pageof 10
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2017
Precision newborn screening for lysosomal disordersMelissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, et al.
American Journal of Human Genetics|January 21, 2004
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix proteinValeria Tiranti, Pio D'Adamo, Egill Briem, et al.
Molecular Genetics and Metabolism|November 28, 2006
Expanded newborn screening identifies maternal primary carnitine deficiencyLisa A Schimmenti, Eric A Crombez, Bernd C Schwahn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 10, 2015
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screeningDerek Wong, Silvia Tortorelli, Lisa Bishop, et al.
International Journal of Neonatal Screening|August 18, 2020
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage DisordersKaren A Sanders, Dimitar K Gavrilov, Devin Oglesbee, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literatureSheri A Poskanzer, Matthew J Schultz, Coleman T Turgeon, et al.
Human Genetics|June 5, 2008
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular levelChristina B Pedersen, Steen Kølvraa, Agnete Kølvraa, et al.
International Journal of Neonatal Screening|October 19, 2020
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type IDawn S Peck, Jean M Lacey, Amy L White, et al.
Molecular Omics|September 14, 2021
Maternal serum lipidomics identifies lysophosphatidic acid as a predictor of small for gestational age neonatesSeul Kee Byeon, Rasheda Khanam, Sayedur Rahman, et al.
Metabolism: Clinical and Experimental|February 18, 2006
Metabolism of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: further evidence for d-2-hydroxyglutarate transhydrogenaseEduard A Struys, Nanda M Verhoeven, Erwin E W Jansen, et al.
Pageof 10

Showing results (81-90 of 100) with videos related to

Sort By:
Pageof 10
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2017
Precision newborn screening for lysosomal disordersMelissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, et al.
American Journal of Human Genetics|January 21, 2004
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix proteinValeria Tiranti, Pio D'Adamo, Egill Briem, et al.
Molecular Genetics and Metabolism|November 28, 2006
Expanded newborn screening identifies maternal primary carnitine deficiencyLisa A Schimmenti, Eric A Crombez, Bernd C Schwahn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 10, 2015
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screeningDerek Wong, Silvia Tortorelli, Lisa Bishop, et al.
International Journal of Neonatal Screening|August 18, 2020
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage DisordersKaren A Sanders, Dimitar K Gavrilov, Devin Oglesbee, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literatureSheri A Poskanzer, Matthew J Schultz, Coleman T Turgeon, et al.
Human Genetics|June 5, 2008
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular levelChristina B Pedersen, Steen Kølvraa, Agnete Kølvraa, et al.
International Journal of Neonatal Screening|October 19, 2020
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type IDawn S Peck, Jean M Lacey, Amy L White, et al.
Molecular Omics|September 14, 2021
Maternal serum lipidomics identifies lysophosphatidic acid as a predictor of small for gestational age neonatesSeul Kee Byeon, Rasheda Khanam, Sayedur Rahman, et al.
Metabolism: Clinical and Experimental|February 18, 2006
Metabolism of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: further evidence for d-2-hydroxyglutarate transhydrogenaseEduard A Struys, Nanda M Verhoeven, Erwin E W Jansen, et al.
Pageof 10