Gaps in the newborn screening process: Using maple syrup urine disease as a case
Acta Medica Philippina
;
: 423-427, 2020.
Article
Dans Anglais
| WPRIM
| ID: wpr-980043
ABSTRACT
@#Saving babies from mental retardation and death is the aim of the newborn screening program. A complex process of sample collection, processing and feedback is undertaken before reaching this goal. As with other systems, the newborn screening program is not perfect and periodic review is needed to continually improve services. Using maple syrup urine disease (which is the most common inborn error of metabolism detected through newborn screening) as an index case, this paper aims to present the gaps in diagnosis and management by citing cases and providing a commentary.
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Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Dépistage néonatal
/
Leucinose
langue:
Anglais
Texte intégral:
Acta Medica Philippina
Année:
2020
Type:
Article
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