Newborn Screening Disorders

Common Name(s)

Newborn Screening Disorders

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Newborn Screening Disorders" for support, advocacy or research.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Newborn Screening Disorders" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Newborn Screening Disorders" returned 18 free, full-text research articles on human participants. First 3 results:

[Prevalence of disorders detected by newborn screening in Santa Catarina].
 

Author(s): Adriana Kleist Clark Nunes, Regiane Gutjahr Wachholz, Marina R M Rover, Liliete Canes Souza

Journal: Arq Bras Endocrinol Metabol. 2013 Jul;57(5):360-7.

 

To evaluate the prevalence of the diseases phenylketonuria (PKU), congenital hypothyroidism (CH), cystic fibrosis (CF), hemoglobinopathies (HB), and congenital adrenal hyperplasia (CAH), in the state of Santa Catarina, in order to delineate the local population profile for these diseases.

Last Updated: 30 Jul 2013

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Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.
 

Author(s): Susan E Waisbren, Yuval Landau, Jenna Wilson, Jerry Vockley

Journal: Dev Disabil Res Rev. 2013 ;17(3):260-8.

 

Mitochondrial fatty acid oxidation disorders include conditions in which the transport of activated acyl-Coenzyme A (CoA) into the mitochondria or utilization of these substrates is disrupted or blocked. This results in a deficit in the conversion of fat into energy. Most patients ...

Last Updated: 26 Jun 2013

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Dried blood spot quality control materials for newborn screening to detect lysosomal storage disorders.
 

Author(s): Víctor R De Jesús, Hui Zhou, Robert F Vogt

Journal: Clin. Chem.. 2013 Aug;59(8):1275-6.

 

Last Updated: 29 Jul 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Newborn Screening Disorders" returned 4 free, full-text review articles on human participants. First 3 results:

Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
 

Author(s): Dietrich Matern, Devin Oglesbee, Silvia Tortorelli

Journal: Dev Disabil Res Rev. 2013 ;17(3):247-53.

 

Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests ...

Last Updated: 26 Jun 2013

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The case for newborn screening for severe combined immunodeficiency and related disorders.
 

Author(s): Jennifer M Puck

Journal: Ann. N. Y. Acad. Sci.. 2011 Dec;1246():108-17.

 

Early detection of primary immunodeficiency is recognized as important for avoiding infectious complications that compromise outcomes. In particular, severe combined immunodeficiency (SCID) is fatal in infancy unless affected infants can be diagnosed before the onset of devastating ...

Last Updated: 12 Jan 2012

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Newborn screening of lysosomal storage disorders.
 

Author(s): Deborah Marsden, Harvey Levy

Journal: Clin. Chem.. 2010 Jul;56(7):1071-9.

 

Newborn screening is a state-based public health program established as a means for the early detection and treatment of certain medical conditions to minimize developmental disability and mortality. The program was initiated more than 40 years ago to detect and prevent phenylketonuria. ...

Last Updated: 29 Jun 2010

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 27 May 2015

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The Impact of Implementing a Universal Newborn Screening for Critical Congenital Heart Disease
 

Status: Recruiting

Condition Summary: Congenital Heart Disease

 

Last Updated: 20 Feb 2015

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Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry
 

Status: Not yet recruiting

Condition Summary: Pompe Disease

 

Last Updated: 3 Aug 2011

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