Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Mick Henderson"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-19 (2018)
Abstract Background Even though early dietary management of phenylketonuria (PKU) successfully prevents severe neurological impairments, deficits in cognitive functioning are still observed. These deficits are believed to be the result of elevated le
Externí odkaz:
https://doaj.org/article/620a50f9b50046f88bc127170528a611
Autor:
Zandra C. Deans, Joo Wook Ahn, Isabel M. Carreira, Elisabeth Dequeker, Mick Henderson, Luca Lovrecic, Katrin Õunap, Melody Tabiner, Rebecca Treacy, Christi J. van Asperen
Publikováno v:
European Journal of Human Genetics, 30(9), 1011-1016. SPRINGERNATURE
Results of clinical genomic testing must be reported in a clear, concise format to ensure they are understandable and interpretable. It is important laboratories are aware of the information which is essential to make sure the results are not open to
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-19 (2018)
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-19 (2018)
Background Even though early dietary management of phenylketonuria (PKU) successfully prevents severe neurological impairments, deficits in cognitive functioning are still observed. These deficits are believed to be the result of elevated levels of p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cc7dabc55da56f10f0975d0a14c2fca
Autor:
Susan V. Picton, Maria Burniston, Mark C. Barnfield, Alastair M. Graham, Una Reid, Mick Henderson
Publikováno v:
Nuclear medicine communications. 34(6)
The study objective was to establish the diagnostic efficacy of cystatin C in the assessment of glomerular filtration rate (GFR) in paediatric oncology patients by investigating the relationships between serum cystatin C, serum creatinine and isotope
Autor:
Tom J. de Koning, Nanda M. Verhoeven-Duif, Mick Henderson, Piero Rinaldo, Berthil H.C.M.T. Prinsen, John H. Walter, Bert Elvers, Monique G.M. de Sain-van der Velden, Peter M. van Hasselt
Publikováno v:
JIMD Reports ISBN: 9783642281280
Deficiency of ornithine-δ-aminotransferase (OAT) in humans results in gyrate atrophy. Early diagnosis may allow initiation of treatment before irreversible damage has occurred. However, diagnosis is commonly delayed well into adulthood because of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d5df922291efc29e29c15fc5510b830
https://doi.org/10.1007/8904_2011_122
https://doi.org/10.1007/8904_2011_122