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

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Re: Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study.

JIMD reports·2026
Same author

Analysis of purines and pyrimidines across biospecimens: influence of storage temperature and duration.

Scientific reports·2026
Same author

Expert Recommendations for Rapid Response to Positive Newborn Screen for Infantile Krabbe Disease.

Neurology. Genetics·2026
Same author

<i>COASY</i>-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I.

International journal of neonatal screening·2026
Same author

Biochemical genetic testing for congenital disorders of glycosylation after sequencing produces equivocal results.

Molecular genetics and metabolism·2026
Same author

Autologous stem cell transplant for severe, progressive juvenile systemic sclerosis.

Stem cells translational medicine·2026
Same journal

Measles-Associated Stridor.

Pediatrics·2026
Same journal

MTHFR, Pneumonia, and Thrombosis in Children: A Gene-Infection Interaction.

Pediatrics·2026
Same journal

Early Adulthood Outcomes Among Individuals With Neurologic Impairment and Technology Assistance.

Pediatrics·2026
Same journal

Video vs Telephone Consultations for Pediatric Quality of Care in Emergency Departments.

Pediatrics·2026
Same journal

A Resource to Understand and Prevent Sudden Unexpected Infant Deaths.

Pediatrics·2026
Same journal

Influenza Vaccine Effectiveness Against Pediatric Death in the United States: 2016-2025.

Pediatrics·2026
See all related articles

Related Experiment Video

Updated: Sep 3, 2025

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

8.0K

Making Decisions About Krabbe Disease Newborn Screening

Joanne Kurtzberg1, Dietrich Matern2, Joseph J Orsini3

  • 1Duke University School of Medicine, Durham, North Carolina.

Pediatrics
|July 27, 2022
PubMed
Summary

No abstract available in PubMed .

More Related Videos

Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR
14:14

Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR

Published on: December 6, 2014

16.8K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K

Related Experiment Videos

Last Updated: Sep 3, 2025

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

8.0K
Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR
14:14

Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR

Published on: December 6, 2014

16.8K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K