Tyrosinemia type III: diagnosis and ten-year follow-up

Autor: Elisabeth Holme, Ubaldo Caruso, L Maritano, Roberto Cerone, M.C. Schiaffino, Corrado Romano

Publikováno v: Acta Paediatrica. 86:1013-1015

Tyrosinemia type III, caused by deficiency of 4-hydroxyphenylpyruvate dioxygenase, is a rare disorder of tyrosine catabolism. Primary 4-hydroxyphenylpyruvate dioxygenase deficiency has been described in only three patients. The biochemical phenotype

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb141350c4205d3576c133a7dae00ee5
https://doi.org/10.1111/j.1651-2227.1997.tb15192.x

Unexpected favorable clinical results of therapy in late diagnosed DHPR deficiency

Autor: M.C. Schiaffino, Roberto Cerone, L. Maritano, Corrado Romano, U. Caruso, A.R. Fantasia, S. Lupino

Publikováno v: Zurich, Switzerland, September 3–8, 1989

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3a3e0e0f7d67c9361493af3ca1f804ee
https://doi.org/10.1515/9783110889000-083

Mechanisms underlying exercise intolerance in long COVID: An accumulation of multisystem dysfunction.

Autor: Jamieson, Alexandra¹ (AUTHOR) alexandra.jamieson.16@ucl.ac.uk, Al Saikhan, Lamia² (AUTHOR), Alghamdi, Lamis^1,2 (AUTHOR), Hamill Howes, Lee¹ (AUTHOR), Purcell, Helen³ (AUTHOR), Hillman, Toby^3,4 (AUTHOR), Heightman, Melissa³ (AUTHOR), Treibel, Thomas^1,5 (AUTHOR), Orini, Michele¹ (AUTHOR), Bell, Robert⁶ (AUTHOR), Scully, Marie⁷ (AUTHOR), Hamer, Mark⁸ (AUTHOR), Chaturvedi, Nishi¹ (AUTHOR), Montgomery, Hugh^9,10 (AUTHOR), Hughes, Alun D.¹ (AUTHOR), Astin, Ronan^3,9 (AUTHOR), Jones, Siana¹ (AUTHOR) siana.jones@ucl.ac.uk

Publikováno v: Physiological Reports. Feb2024, Vol. 12 Issue 3, p1-16. 16p.

Exploratory analysis of seaplane operations in Greece: insights of a survey and SWOT analysis.

Autor: Andrade, José Francisco¹ (AUTHOR), Kalakou, Sofia² (AUTHOR) sofia.kalakou@iscte-iul.pt, Lopes da Costa, Renato² (AUTHOR)

Publikováno v: European Planning Studies. Apr2023, Vol. 31 Issue 4, p679-699. 21p. 1 Diagram, 11 Charts.

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