Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Bea Gutierrez"'
Autor:
Mona Sajeev, Sharon Chin, Gladys Ho, Bruce Bennetts, Bindu Parayil Sankaran, Bea Gutierrez, Beena Devanapalli, Adviye Ayper Tolun, Veronica Wiley, Janice Fletcher, Maria Fuller, Shanti Balasubramaniam
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 2, p 25 (2021)
Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation of leucine, isoleucine, and valine. Biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT genes result in enzyme deficie
Externí odkaz:
https://doaj.org/article/979438ed99754cd6b70d5292626f35db
Publikováno v:
Journal of paediatrics and child healthReferences.
The New South Wales (NSW) biochemical genetics (BG) service in Australia developed business continuity plans (BCPs) in response to the COVID-19 pandemic to ensure the essential service remained operational. This article aims to discuss the effects of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee2152dc0d53ae045f417e377c7b7df7
https://pubmed.ncbi.nlm.nih.gov/36422466
https://pubmed.ncbi.nlm.nih.gov/36422466
Autor:
Sharon J. Chin, Adviye Ayper Tolun, Gladys Ho, Bea Gutierrez, Veronica Wiley, Janice M. Fletcher, Bruce Bennetts, Mona Sajeev, Bindu Parayil Sankaran, Beena Devanapalli, Shanti Balasubramaniam, Maria Fuller
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 25, p 25 (2021)
International Journal of Neonatal Screening
International Journal of Neonatal Screening
Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation of leucine, isoleucine, and valine. Biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT genes result in enzyme deficie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36bb2f0e78bf7532b4a2661a2bcc0f3a
https://www.mdpi.com/2409-515X/7/2/25
https://www.mdpi.com/2409-515X/7/2/25