Zobrazeno 1 - 2 of 2 pro vyhledávání: '"Catherine Jenner"'
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Akademický článek
Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective
Autor: Raymond Saich, Renee Brown, Maddy Collicoat, Catherine Jenner, Jenna Primmer, Beverley Clancy, Tarryn Holland, Steven Krinks
Publikováno v: International Journal of Neonatal Screening, Vol 6, Iss 1, p 1 (2020)
Pompe disease (PD) is a rare, autosomal-recessively inherited deficiency in the enzyme acid α-glucosidase. It is a spectrum disorder; age at symptom onset and rate of deterioration can vary considerably. In affected infants prognosis is poor, such t
Externí odkaz: https://doaj.org/article/b8230d0185c04b489d633a079a522703
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2
Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective
Autor: Beverley Clancy, Maddy Collicoat, Tarryn Holland, Steven Krinks, Renee Brown, Catherine Jenner, Raymond Saich, Jenna Primmer
Publikováno v: International Journal of Neonatal Screening, Vol 6, Iss 1, p 1 (2020)
International Journal of Neonatal Screening
Pompe disease (PD) is a rare, autosomal-recessively inherited deficiency in the enzyme acid α-glucosidase. It is a spectrum disorder; age at symptom onset and rate of deterioration can vary considerably. In affected infants prognosis is poor, such t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebf4b3e7019fbe86365b3e2921d64866
https://www.mdpi.com/2409-515X/6/1/1
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Plný text Recenzováno Digitální knihovna AV ČR
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