Maternal Glutaric aciduria type I and newborn screening

Introduction: Expanded Newborn Screening (NBS) programs based on MS/MS, result in a massive increase of screened metabolic disorders and detected patients. Alongside with the detection of classical forms of screened metabolic disorders, milder forms (many whose existence was unknown until now) are b...

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Bibliographic Details
Main Author: Rocha, Hugo (author)
Other Authors: Garcia, Paula (author), Martins, Esmeralda (author), Rodrigues, Esmeralda (author), Gaspar, Ana (author), Marcão, Ana (author), Sousa, Carmen (author), Fonseca, Helena (author), Lopes, Lurdes (author), Carvalho, Ivone (author), Vilarinho, Laura (author)
Format: conferenceObject
Language:eng
Published: 2020
Subjects:
Glutaric Aciduria Type I
Maternal Glutaric Aciduria Type I
Newborns
Portuguese Newborn Screening Program
Newborn Screening
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/6793
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6793

Internet

http://hdl.handle.net/10400.18/6793

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