Newborn Screening Disorders

Common Name(s)

Newborn Screening Disorders

Description for this condition is not yet available.
 

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Condition Specific Organizations

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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 29 free, full-text research articles on human participants. First 3 results:

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
 

Author(s): Eungu Kang, Yoon-Myung Kim, Minji Kang, Sun-Hee Heo, Gu-Hwan Kim, In-Hee Choi, Jin-Ho Choi, Han-Wook Yoo, Beom Hee Lee

Journal:

 

Fatty acid oxidation disorders (FAODs) include more than 15 distinct disorders with variable clinical manifestations. After the introduction of newborn screening using tandem mass spectrometry, early identification of FAODs became feasible. This study describes the clinical, biochemical ...

Last Updated: 31 Dec 1969

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Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
 

Author(s): Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R Baumgartner, Stefan Kölker, Georg F Hoffmann, Gwendolyn Gramer, Jürgen G Okun

Journal:

 

Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively non-specific, resulting in the ...

Last Updated: 31 Dec 1969

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Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.
 

Author(s): Yetsa Osara, Kathryn Coakley, Aishwarya Devarajan, Rani H Singh

Journal:

 

Newborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was launched in 2012 by Emory University after years of planning and grassroots ...

Last Updated: 31 Dec 1969

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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 6 free, full-text review articles on human participants. First 3 results:

Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.
 

Author(s): Nicola Longo

Journal: Ann. Nutr. Metab.. 2016 ;68 Suppl 3():5-9.

 

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 ...

Last Updated: 31 Dec 1969

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Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
 

Author(s): Martina Huemer, Viktor Kožich, Piero Rinaldo, Matthias R Baumgartner, Begoña Merinero, Elisabetta Pasquini, Antonia Ribes, Henk J Blom

Journal: J. Inherit. Metab. Dis.. 2015 Nov;38(6):1007-19.

 

Newborn screening (NBS) is justified if early intervention is effective in a disorder generally not detected early in life on a clinical basis, and if sensitive and specific biochemical markers exist. Experience with NBS for homocystinurias and methylation disorders is limited. However, ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 14 May 2018

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Neonatal Screening of Severe Combined Immunodeficiencies
 

Status: Recruiting

Condition Summary: Severe Combined Immunodeficiency; Neonatal Screening

 

Last Updated: 29 Mar 2018

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Genomic Sequencing for Childhood Risk and Newborn Illness
 

Status: Recruiting

Condition Summary: Hereditary Disease; Genetic Predisposition to Disease

 

Last Updated: 27 Feb 2018

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