Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome

BACKGROUND: PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early diagnosis. METHODS: Data were collected on 61 infants with a molecular diagnosis...

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Bibliografiska uppgifter
I publikationen:Orphanet J Rare Dis
Huvudupphovsmän: Bar, Céline, Diene, Gwenaelle, Molinas, Catherine, Bieth, Eric, Casper, Charlotte, Tauber, Maithé
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2017
Ämnen:
Research
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5490212/
https://ncbi.nlm.nih.gov/pubmed/28659150
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0673-6
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