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Newborn Screening Disorders

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Newborn Screening Disorders" returned 6 free, full-text review articles. First few results:
Newborn Screening for Lysosomal Storage Disorders.
Last Updated: Oct 18, 2019

Lysosomal storage disorders (LSDs) are a heterogeneous group of approximately 50 rare inherited metabolic conditions that result from enzyme deficiencies that interfere with lysosome function. Although often grouped together, there is great variability regarding age of onset, severity, ...

A Historical and Current Review of Newborn Screening for Neuromuscular Disorders From Around the World: Lessons for the United States.
Last Updated: Jul 10, 2018

We aimed to review the history of newborn screening for three neuromuscular disorders (Duchenne muscular dystrophy, Pompe disease, and spinal muscular atrophy [SMA]) to determine best practices.

Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.
Last Updated: May 14, 2018

Carnitine is needed for transfer of long-chain fatty acids across the inner mitochondrial membrane for subsequent β-oxidation. Carnitine can be synthesized by the body and is also obtained in the diet through consumption of meat and dairy products. Defects in carnitine transport ...

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6 Free Review Articles 25 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Newborn Screening Disorders" returned 2 free, full-text editorial articles. First 2 results:
Newborn screening of metabolic disorders.
Last Updated: Dec 30, 2016

Full PubMed Editorials matches at NCBI:
2 Free Editorials 6 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Newborn Screening Disorders" returned 30 free, full-text research articles. First few results:
[Newborn screening for metabolic disorders in Spain and worldwide].
Last Updated: Jan 23, 2020

Newborn screening programs are key players in a country's public health strategies, preventing the burden of care associated with the screened disorders. Its importance has dramatically intensified in recent years due to the increasing number of disorders that fulfil criteria for ...

Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Last Updated: Jun 13, 2019

To evaluate the incidence, disease spectrum, and genetic characteristics of inherited metabolic disorders (IMDs) of newborns in Quanzhou area, China. We analyze the expanded newborn screening results of IMDs detected by tandem mass spectrometry (MS/MS) during 5 years. Suspected ...

Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.
Last Updated: May 24, 2019

Incidence rates of Mendelian diseases vary among ethnic groups, and frequencies of variant types of causative genes also vary among human populations. In this study, we examined to what extent we can predict population frequencies of recessive disorders from genomic data, and explored ...

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30 Free Research Articles 94 Research Articles