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

Fixed Action Patterns01:06

Fixed Action Patterns

17.7K
A fixed action pattern (FAP) is a specific, hard-wired sequence of behaviors that occurs in response to an external stimulus, called a sign stimulus. The behavior is “fixed” because it is essentially unchangeable—proceeding similarly across individuals of a species every time it occurs.
17.7K
Action Potentials01:41

Action Potentials

142.8K
Overview
142.8K
Action Potential01:31

Action Potential

4.7K
Neurons communicate by firing action potentials—the electrochemical signal that is propagated along the axon. The signal results in the release of neurotransmitters at axon terminals, thereby transmitting information to the nervous system. An action potential is a specific "all-or-none" change in membrane potential that results in a rapid spike in voltage.
Membrane potential in neurons
Neurons typically have a resting membrane potential of about -70 millivolts (mV). When they receive...
4.7K
Action Potential01:14

Action Potential

11.4K
Neurons communicate by firing action potentials—the electrochemical signal that is propagated along the axon. The signal results in the release of neurotransmitters at axon terminals, thereby transmitting information to the nervous system. An action potential is a specific "all-or-none" change in membrane potential that results in a rapid spike in voltage.
Membrane potential in neurons
Neurons typically have a resting membrane potential of about -70 millivolts (mV). When they receive...
11.4K
Antibody Actions01:26

Antibody Actions

2.8K
Antibodies, or immunoglobulins, are critical players in the immune system's arsenal against invading pathogens. Produced by B cells and plasma cells, their primary role is to detect and bind to specific antigens, molecules found on the surface of pathogens like bacteria or viruses. Beyond antigen recognition, antibodies perform several vital functions that contribute to immune defense.
Neutralization
Antibodies can bind to pathogens, preventing them from infecting host cells. This process...
2.8K
Principles of Drug Action01:24

Principles of Drug Action

8.7K
Drugs are chemical substances that modify biological responses by interacting with macromolecular targets such as receptors, ion channels, transporters, and enzymes. Pharmacodynamics describes the course of action of drugs leading to the physiological effect at a specific site in the body.
Drugs can be agonists or antagonists. Like the endogenous ligands, agonists always bind and activate the target to produce a cellular response. Agonist binding induces a conformational change which in turn...
8.7K

You might also read

Related Articles

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

Sort by
Same author

Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis.

Frontiers in pediatrics·2024
Same author

Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies.

Orphanet journal of rare diseases·2022
Same author

Corrigendum to Universal newborn screening: A roadmap for action molecular genetics and metabolism 124 (2018) 177-183.

Molecular genetics and metabolism·2019
Same author

Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002-2014).

BMC pediatrics·2019
Same author

Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide.

Journal of community genetics·2018
Same author

Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas·2017
Same journal

Participants with long-chain 3-hydroxy-acylCoA dehydrogenase deficiency (LCHADD)/trifunctional protein deficiency (TFPD) report consistent low-fat diet intake over time.

Molecular genetics and metabolism·2026
Same journal

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.

Molecular genetics and metabolism·2026
Same journal

Driving treatment for females with X-linked adrenoleukodystrophy.

Molecular genetics and metabolism·2026
Same journal

High dietary fat causes muscle structural breakdown, mitochondrial dysfunction, and contractile deficits in the absence of carnitine palmitoyltransferase 2.

Molecular genetics and metabolism·2026
Same journal

Ketogenic diet therapy in pyruvate dehydrogenase deficiency: Global clinical practice from literature and survey data.

Molecular genetics and metabolism·2026
Same journal

Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study.

Molecular genetics and metabolism·2026
See all related articles

Related Experiment Video

Updated: Feb 9, 2026

Universal Screening for Prevention of Reading, Writing, and Math Disabilities in Spanish
14:43

Universal Screening for Prevention of Reading, Writing, and Math Disabilities in Spanish

Published on: July 18, 2020

8.6K

Universal newborn screening: A roadmap for action.

C P Howson1, B Cedergren2, R Giugliani3

  • 1Howson & Partners for Global Health, Santa Fe, NM, USA.

Molecular Genetics and Metabolism
|June 10, 2018
PubMed
Summary
This summary is machine-generated.

Newborn screening (NBS) identifies serious congenital disorders in newborns, enabling early treatment to prevent severe illness and death. Expanding NBS programs globally saves lives and prevents disabilities in infants worldwide.

More Related Videos

How to Obtain Reliable Visual Event-related Potentials in Newborns
07:39

How to Obtain Reliable Visual Event-related Potentials in Newborns

Published on: October 24, 2019

6.8K
Primary Culture of Hippocampal Neurons from P0 Newborn Rats
07:18

Primary Culture of Hippocampal Neurons from P0 Newborn Rats

Published on: September 29, 2008

77.7K

Related Experiment Videos

Last Updated: Feb 9, 2026

Universal Screening for Prevention of Reading, Writing, and Math Disabilities in Spanish
14:43

Universal Screening for Prevention of Reading, Writing, and Math Disabilities in Spanish

Published on: July 18, 2020

8.6K
How to Obtain Reliable Visual Event-related Potentials in Newborns
07:39

How to Obtain Reliable Visual Event-related Potentials in Newborns

Published on: October 24, 2019

6.8K
Primary Culture of Hippocampal Neurons from P0 Newborn Rats
07:18

Primary Culture of Hippocampal Neurons from P0 Newborn Rats

Published on: September 29, 2008

77.7K

Area of Science:

  • Medical Genetics
  • Public Health
  • Pediatrics

Background:

  • Congenital disorders affect approximately 8 million newborns annually worldwide.
  • Newborn screening (NBS) is crucial for early detection and management of treatable infant disorders.
  • Effective NBS programs prevent significant morbidity and mortality.

Observation:

  • Three of the top five congenital disorders contributing to the global burden are identifiable and manageable through NBS.
  • NBS programs are emerging in Latin America, Sub-Saharan Africa, and the Asia Pacific.
  • These initiatives involve diverse partnerships, including government, NGOs, academia, and the private sector.

Findings:

  • Novel NBS programs are being developed through collaborative efforts in various global regions.
  • These programs are successfully saving infant lives and preventing long-term disabilities.
  • The expansion of NBS demonstrates a growing commitment to infant health globally.

Implications:

  • Widespread implementation of NBS can substantially reduce the global burden of congenital disorders.
  • Strengthening international partnerships is key to advancing NBS accessibility and effectiveness.
  • Early diagnosis and treatment through NBS significantly improve long-term health outcomes for affected children.