Zobrazeno 1 - 10
of 1 253
pro vyhledávání: '"Aminoaciduria"'
Autor:
Mehdi Yeganeh, Christiane Auray‐Blais, Bruno Maranda, Amanda Sabovic, Robert J. DeVita, Michael B. Lazarus, Sander M. Houten
Publikováno v:
JIMD Reports, Vol 64, Iss 6, Pp 440-445 (2023)
Abstract Hyperlysinemia is a rare autosomal recessive deficiency of 2‐aminoadipic semialdehyde synthase (AASS) affecting the initial step in lysine degradation. It is thought to be a benign biochemical abnormality, but reports on cases remain scarc
Externí odkaz:
https://doaj.org/article/103b38baeae4401682c5bdb0acf2a50e
Publikováno v:
Journal of Rawalpindi Medical College, Vol 25, Iss 1 (2021)
Objective: To determine the frequency of various Inherited Metabolic Diseases (IMDs) in clinically suspected neonates and children in relation to age, gender, and distribution in rural and urban areas. Materials and Methods: A total of 275 symptomati
Externí odkaz:
https://doaj.org/article/75123d8a45cb45138ff4656059cd3a31
Kniha
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Matthew F. Waters, Viviane Delghingaro-Augusto, Kiran Javed, Jane E. Dahlstrom, Gaetan Burgio, Stefan Bröer, Christopher J. Nolan
Publikováno v:
Metabolites, Vol 11, Iss 10, p 665 (2021)
High protein feeding has been shown to accelerate the development of type 1 diabetes in female non-obese diabetic (NOD) mice. Here, we investigated whether reducing systemic amino acid availability via knockout of the Slc6a19 gene encoding the system
Externí odkaz:
https://doaj.org/article/13549c80a76b4a85a8c057bbeb597e2e
Autor:
Viola D’Ambrosio, David S. Goldfarb, Giovanni Gambaro, Pietro Manuel Ferraro, Giovanna Capolongo
Publikováno v:
Pediatric Nephrology. 37:1705-1711
Cystinuria is the most common genetic cause of nephrolithiasis in children. It is considered a heritable aminoaciduria as the genetic defect affects the reabsorption of cystine and three other amino acids (ornithine, lysine, and arginine) in the rena
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e3850af24ed91b34b83c398239c42d0
https://doi.org/10.1007/s00467-021-05342-y
https://doi.org/10.1007/s00467-021-05342-y
Publikováno v:
Translational Science of Rare Diseases
Background Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder characterized by deficient membrane transport of cationic amino acids. It is caused by pathogenic variants in SLC7A7, resulting in impairment of intestinal import a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd0d28cb66764fac78503fd26da84872
http://europepmc.org/articles/PMC7590902
http://europepmc.org/articles/PMC7590902
Publikováno v:
European Journal of Clinical Medicine. 2:1-5
Background: Neurometabolic disorders are inborn errors of metabolism with neurological manifestations. They are individually rare but as a group have a significant burden. They constitute 4.9% of genetic cause of moderate and severe mental retardatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::acb641bd5ea67f22d255c84d166d2b29
https://doi.org/10.24018/clinicmed.2021.2.4.105
https://doi.org/10.24018/clinicmed.2021.2.4.105
Publikováno v:
Journal of Rawalpindi Medical College, Vol 25, Iss 1 (2021)
Objective: To determine the frequency of various Inherited Metabolic Diseases (IMDs) in clinically suspected neonates and children in relation to age, gender, and distribution in rural and urban areas.Materials and Methods: A total of 275 symptomatic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::286b55c84556f8d6e709f78797ae6508
https://doi.org/10.37939/jrmc.v25i1.1494
https://doi.org/10.37939/jrmc.v25i1.1494
Autor:
Akihiro Ryuge, Noritoshi Kato, Takuji Ishimoto, Hiroshi Morioka, Tomoki Kosugi, Shoji Saito, Shoichi Maruyama, Asaka Hachiya
Publikováno v:
Internal Medicine. 60:761-764
Nontyphoidal Salmonella is a common cause of bacterial gastroenteritis, occasionally causing bacteremia. We herein report the case of an 80-year-old man who presented with bacteremia and pre-renal acute kidney injury (AKI) secondary to diarrhea cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95a79c677336e248a13865332353fe37
https://doi.org/10.2169/internalmedicine.5932-20
https://doi.org/10.2169/internalmedicine.5932-20
Autor:
Stefan Bröer, Matthew F Waters, Jane E. Dahlstrom, Viviane Delghingaro-Augusto, Kiran Javed, Gaetan Burgio, Christopher J. Nolan
Publikováno v:
Metabolites
Volume 11
Issue 10
Metabolites, Vol 11, Iss 665, p 665 (2021)
Volume 11
Issue 10
Metabolites, Vol 11, Iss 665, p 665 (2021)
High protein feeding has been shown to accelerate the development of type 1 diabetes in female non-obese diabetic (NOD) mice. Here, we investigated whether reducing systemic amino acid availability via knockout of the Slc6a19 gene encoding the system
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::765839da3957a351246fcd3c01bb60ff