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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Detalhes bibliográficos
Autor principal: Rocha, Hugo (author)
Outros Autores: 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)
Formato: conferenceObject
Idioma:eng
Publicado em: 2020
Assuntos:
Glutaric Aciduria Type I
Maternal Glutaric Aciduria Type I
Newborns
Portuguese Newborn Screening Program
Newborn Screening
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/6793
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6793

Texto Completo

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

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