Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Maddy Collicoat"'
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
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
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
https://www.mdpi.com/2409-515X/6/1/1