Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Tyrosinaemia type I"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Physical Growth of Patients with Hereditary Tyrosinaemia Type I: A Single-Centre Retrospective Study
Autor:
Catherine Ashmore, Ozlem Yilmaz, Nurcan Yabanci Ayhan, Richard J. Jackson, Girish Gupte, Alex Pinto, Sharon Evans, Anne Daly, Anita MacDonald
Publikováno v:
Nutrients, Vol 13, Iss 3070, p 3070 (2021)
Nutrients
Volume 13
Issue 9
Nutrients
Volume 13
Issue 9
In a retrospective review, we aimed to assess long-term growth in 17 patients (n = 11 males) with hereditary tyrosinaemia type I (HTI). Median age at assessment was 15.6 years (5.7–26.6 years) and median age at diagnosis was 1 month (range: 0–16
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e5efb85e4f7a5fbe2085003073b8875
https://www.mdpi.com/2072-6643/13/9/3070
https://www.mdpi.com/2072-6643/13/9/3070
Publikováno v:
International Journal of Neonatal Screening, Vol 2, Iss 3, p 7 (2016)
From 3–4 June, 2016, the 23rd Annual Meeting of the German Society for Newborn Screening (Deutsche Gesellschaft für Neugeborenenscreening, DGNS) was held at the University Hospital Heidelberg. The meeting was organized by PD Dr. med. Gwendolyn Gra
Externí odkaz:
https://doaj.org/article/4a9e5e8e02fd42069e8fdb5c744a68d4
Publikováno v:
JIMD Reports ISBN: 9783662578797
To examine neuropsychiatric outcomes in adults with hereditary tyrosinaemia type I (HT-1), treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and correlate these with functional imaging as well as with tyrosine and phenylal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd9f7922339fa4a6ac395db62050c49d
https://europepmc.org/articles/PMC6122041/
https://europepmc.org/articles/PMC6122041/
Autor:
Edward A. Lock
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9783319557793
The discovery that a natural product leptospermone had herbicidal activity formed the starting point for chemical synthesis to find more activity and selectivity. A series of molecules called triketones were found to possess good activity and 2-(2-ni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7b732bc866269522a91e904a27b8671
https://doi.org/10.1007/978-3-319-55780-9_16
https://doi.org/10.1007/978-3-319-55780-9_16
Autor:
Ertan Mayatepek, C. Perot, K. Ketteler, U. Wendel, Ute Spiekerkoetter, Jan-Ulrich Schlump, Manuel Schiff
Publikováno v:
Journal of Inherited Metabolic Disease. 31:223-225
Neurological crises do not occur in patients with tyrosinaemia type I treated with NTBC. We report an 8 month-old boy with severe neurological crisis after interruption of NTBC treatment including progressive ascending polyneuropathy and diaphragmati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a41a19e5ffd30699ae7b79ec8dff6ecc
https://doi.org/10.1007/s10545-008-0807-z
https://doi.org/10.1007/s10545-008-0807-z
Publikováno v:
Journal of Inherited Metabolic Disease. 30:585-592
The continued expansion of newborn screening programmes to include additional conditions increases the responsibility of newborn screening laboratories to provide testing with the highest sensitivity and specificity to allow for identification of aff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62b25ada6c3281b32724258050732aed
https://doi.org/10.1007/s10545-007-0691-y
https://doi.org/10.1007/s10545-007-0691-y
Publikováno v:
Acta Paediatrica. 92:625-628
UNLABELLED In a male patient with hereditary tyrosinaemia type I (HTI), NTBC [2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexandion] treatment and a diet low in phenylalanine and tyrosine were started at the age of 4 wk. At the recommended average
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b047a57e0b94282c68d71e1566f5494
https://doi.org/10.1111/j.1651-2227.2003.tb02518.x
https://doi.org/10.1111/j.1651-2227.2003.tb02518.x
Publikováno v:
International Journal of Neonatal Screening, Vol 2, Iss 3, p 7 (2016)
From 3–4 June, 2016, the 23rd Annual Meeting of the German Society for Newborn Screening (Deutsche Gesellschaft für Neugeborenenscreening, DGNS) was held at the University Hospital Heidelberg. The meeting was organized by PD Dr. med. Gwendolyn Gra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db6ada943255a5a74ce796b2e8c33a5c
https://doi.org/10.3390/ijns2030007
https://doi.org/10.3390/ijns2030007
Autor:
S. N. Joshi, P. Venugopalan
Publikováno v:
Annals of Tropical Paediatrics. 24:259-265
We present the clinical data of five infants with type I (hepato-renal) tyrosinaemia on NTBC therapy. All presented initially at the local hospital in the 1st year of life with progressive abdominal distension owing to hepato-splenomegaly and with ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d575c64b31332f5c490ec9a741b695f7
https://doi.org/10.1179/027249304225019000
https://doi.org/10.1179/027249304225019000