Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Nicky Mumford"'
Autor:
Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jörgen Bierau, Peter M. van Hasselt, Paul Gissen, Philippe J. Goyens, Patrick J. McKiernan, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Stephan C. J. Huijbregts, Francjan J. van Spronsen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive o
Externí odkaz:
https://doaj.org/article/456f9a0c82e24d62a934b9c10dcac704
Autor:
Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Saikat Santra, Corinne De Laet, Philippe J. Goyens, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Paul Gissen, Jörgen Bierau, Peter M. van Hasselt, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Alicia de la Parra, Carolina Arias, Maria I. Garcia, Veronica Cornejo, Annet M. Bosch, Carla E. M. Hollak, M. Estela Rubio‐Gozalbo, Martijn C. G. J. Brouwers, Floris C. Hofstede, Maaike C. de Vries, Mirian C. H. Janssen, Ans T. van der Ploeg, Janneke G. Langendonk, Stephan C. J. Huijbregts, Francjan J. van Spronsen
Publikováno v:
Journal of Inherited Metabolic Disease, 45, 5, pp. 952-962
Journal of Inherited Metabolic Disease, 45(5), 952-962. Springer Netherlands
Journal of inherited metabolic disease, 45(5), 952-962. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(5), 952-962. SPRINGER
Journal of Inherited Metabolic Disease, 45(5), 952-962. Wiley
Journal of inherited metabolic disease
Journal of Inherited Metabolic Disease, 45, 952-962
Journal of Inherited Metabolic Disease, 45(5), 952-962. Springer Netherlands
Journal of inherited metabolic disease, 45(5), 952-962. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(5), 952-962. SPRINGER
Journal of Inherited Metabolic Disease, 45(5), 952-962. Wiley
Journal of inherited metabolic disease
Journal of Inherited Metabolic Disease, 45, 952-962
Tyrosinemia type 1 (TT1) and phenylketonuria (PKU) are both inborn errors of phenylalanine-tyrosine metabolism. Neurocognitive and behavioral outcomes have always featured in PKU research but received less attention in TT1 research. This study aimed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72de86577aab81162333e22064d06f61
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/286856
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/286856
Autor:
David Cassiman, Willem G. van Ginkel, Andrew A. M. Morris, Roshni Vara, Jörgen Bierau, Anne Daly, Francjan J. van Spronsen, Corinne De Laet, Anita MacDonald, Kimber van Vliet, François Eyskens, Gisela Wilcox, Philippe Goyens, Rianne Jahja, Peter M. van Hasselt, Elisabeth Jameson, Stephan C. J. Huijbregts, Paul Gissen, C. Timmer, Nicky Mumford, Patrick J. McKiernan, Yusof Rahman
Publikováno v:
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases, 14(1). BioMed Central
Orphanet journal of rare diseases, 14(1):285. BMC
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Orphanet Journal of Rare Diseases, 14, e285
Orphanet Journal of Rare Diseases, 14(1):285. BioMed Central Ltd
Orphanet journal of rare diseases, 14 (1
Orphanet journal of rare diseases, 14(1). BioMed Central
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14(1). BioMed Central
Orphanet journal of rare diseases, 14(1):285. BMC
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Orphanet Journal of Rare Diseases, 14, e285
Orphanet Journal of Rare Diseases, 14(1):285. BioMed Central Ltd
Orphanet journal of rare diseases, 14 (1
Orphanet journal of rare diseases, 14(1). BioMed Central
Orphanet Journal of Rare Diseases
Background: Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive outcome i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::317beaf8dbe33813f8432425140f5b9a
https://hdl.handle.net/10067/1666210151162165141
https://hdl.handle.net/10067/1666210151162165141