Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Review Article on Inborn Errors of Metabolism"'
Publikováno v:
Annals of translational medicine. 6(24)
Glucose is the main energy fuel for the human brain. Maintenance of glucose homeostasis is therefore, crucial to meet cellular energy demands in both - normal physiological states and during stress or increased demands. Glucose is stored as glycogen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05e4fa114db362d6311db9d97a0a6aa8
https://pubmed.ncbi.nlm.nih.gov/30740405
https://pubmed.ncbi.nlm.nih.gov/30740405
Publikováno v:
Annals of translational medicine. 6(24)
Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism due to disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The presentation of a FAOD will depend upon the specific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ce8dc0c19748ee9c57f798f1452d09c
https://pubmed.ncbi.nlm.nih.gov/30740404
https://pubmed.ncbi.nlm.nih.gov/30740404
Publikováno v:
Annals of translational medicine. 6(24)
This review of integrated behavioral health (IBH) provides a background on IBH models, and the benefits of IBH in pediatric practice with an emphasis on how IBH specialists can collaborate with families and clinicians. An overview of intellectual dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd9ad582baea8f938655a5e923bafccc
https://pubmed.ncbi.nlm.nih.gov/30740409
https://pubmed.ncbi.nlm.nih.gov/30740409
Publikováno v:
Annals of translational medicine. 6(24)
Inborn errors of metabolism (IEMs) are rare genetic or inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or impaired organelle function presenting as complicat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc1924b17f075b25041d672b5ebd5753
https://pubmed.ncbi.nlm.nih.gov/30740400
https://pubmed.ncbi.nlm.nih.gov/30740400
Publikováno v:
Annals of translational medicine. 6(24)
Organic acids (OAs) are intermediary products of several amino acid catabolism or degradation via multiple biochemical pathways for energy production. Vitamins or co-factors are often quintessential elements in such degradation pathways and OA metabo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ffd6663e25066a843c28879c1ebc1be
https://pubmed.ncbi.nlm.nih.gov/30740403
https://pubmed.ncbi.nlm.nih.gov/30740403
Publikováno v:
Annals of Translational Medicine. 6:468-468
Newborn screening (NBS) in the United States helps each year diagnose, 1 in every 320 newborns (12,500 of the 4 million births), with a potentially severe or lethal condition prior to clinical symptoms manifestation. 10% of these are inborn errors of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::751d7cb2a372f83b88ad0224f986055b
https://doi.org/10.21037/atm.2018.11.68
https://doi.org/10.21037/atm.2018.11.68
Autor:
Shibani, Kanungo, Jacob, Morton, Mekala, Neelakantan, Kevin, Ching, Jasmine, Saeedian, Amy, Goldstein
Publikováno v:
Annals of Translational Medicine. 6:475-475
Primary mitochondrial disorders are a group of clinically variable and heterogeneous inborn errors of metabolism (IEMs), resulting from defects in cellular energy, and can affect every organ system of the body. Clinical presentations vary and may inc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62c3b16bd18e1633da41578bdcd14c0e
https://doi.org/10.21037/atm.2018.12.13
https://doi.org/10.21037/atm.2018.12.13
Autor:
Georgianne L. Arnold
Publikováno v:
Annals of Translational Medicine. 6:467-467
The 21st century is an exciting time to be in the field of metabolic medicine. As with many fields, one of the keys to anticipating the future is to understand the past. The term “inborn error of metabolism” was first coined in 1908 by Sir Archib
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::807fb75849a56eaa0700a9f8f2b17ac0
https://doi.org/10.21037/atm.2018.11.36
https://doi.org/10.21037/atm.2018.11.36
Publikováno v:
Annals of Translational Medicine. 6:471-471
Amino acids serve as key building blocks and as an energy source for cell repair, survival, regeneration and growth. Each amino acid has an amino group, a carboxylic acid, and a unique carbon structure. Human utilize 21 different amino acids; most of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::565c57cfcdc6de1f5a8c8bd7dda84fc3
https://doi.org/10.21037/atm.2018.12.12
https://doi.org/10.21037/atm.2018.12.12
Autor:
Angela Sun
Publikováno v:
Annals of Translational Medicine. 6:476-476
The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate. This storage process leads to a broad s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c47b27d4586cd9fed73ef6c25efdabb
https://doi.org/10.21037/atm.2018.11.39
https://doi.org/10.21037/atm.2018.11.39