PGAP3-Congenital Disorder of Glycosylation
PGAP3-congenital disorder of glycosylation, or PGAP3-CDG for short, also known as Mabry syndrome and previously known as hyperphosphatasia with impaired intellectual development syndrome 4, is a rare inherited neurological disorder caused by defects in one of the pathways of glycosylation.
Affected individuals can have distinctive facial features that include a broad and short nose, wide-set eyes, a thin upper lip, large ears, and full cheeks; though these features may not be apparent in infancy.
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Видео PGAP3-Congenital Disorder of Glycosylation канала Osmosis from Elsevier
Affected individuals can have distinctive facial features that include a broad and short nose, wide-set eyes, a thin upper lip, large ears, and full cheeks; though these features may not be apparent in infancy.
#shorts
Find our full video library only on Osmosis Prime: http://osms.it/more.
Join over 3 million current & future clinicians who learn by Osmosis, and over 130 universities around the world who partner with us to make medical and health education more engaging and efficient. We have unparalleled tools and materials to prepare you to succeed in school, on board exams, and as a future clinician. Sign up for a free trial at http://osms.it/more. If you're interested in exploring an institutional partnership, visit osmosis.org/educators to request a personalized demo.
Follow us on social:
Facebook: http://osms.it/facebook
Twitter: http://osms.it/twitter
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Instagram for nursing: https://osms.it/ignursing
Linkedin: https://osms.it/linkedin
Our Vision: Everyone who cares for someone will learn by Osmosis.
Our Mission: To empower the world’s clinicians and caregivers with the best learning experience possible. Learn more here: http://osms.it/mission
Medical disclaimer: Knowledge Diffusion Inc (DBA Osmosis) does not provide medical advice. Osmosis and the content available on Osmosis's properties (Osmosis.org, YouTube, and other channels) do not provide a diagnosis or other recommendation for treatment and are not a substitute for the professional judgment of a healthcare professional in diagnosis and treatment of any person or animal. The determination of the need for medical services and the types of healthcare to be provided to a patient are decisions that should be made only by a physician or other licensed health care provider. Always seek the advice of a physician or other qualified healthcare provider with any questions you have regarding a medical condition.
Видео PGAP3-Congenital Disorder of Glycosylation канала Osmosis from Elsevier
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13 сентября 2023 г. 10:00:03
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