Zobrazeno 1 - 10
of 57
pro vyhledávání: '"N Sarkissian"'
Publikováno v:
Molecular Genetics and Metabolism. 137:388-398
Charles Scriver is a towering figure in the medical genetics community. At 92 he can look back upon a remarkable career that established the field of biochemical genetics, a subsection of medical genetics that is translating the developments in basic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bb41fed68ca679505c54bb3f5a98952
https://doi.org/10.1016/j.ymgme.2022.11.001
https://doi.org/10.1016/j.ymgme.2022.11.001
Publikováno v:
Journal of Inherited Metabolic Disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::800da35043d45fb52c29ac3c78805441
https://doi.org/10.1002/jimd.12624
https://doi.org/10.1002/jimd.12624
Akademický článek
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Autor:
E Kemp, K Sutherland, Y Bin, A Chan, H Dissanayake, B Yee, K Kairaitis, J Wheatley, P De Chazal, A Piper, N Sarkissian, P Cistulli
Publikováno v:
SLEEP Advances. 3:A5-A6
Background Recent population level data has identified specific symptom and polysomnographic profiles associated with development of cardiovascular disease (CVD) in obstructive sleep apnoea (OSA). Our aims were to determine whether these profiles wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aaac54d2490a6e9ef7e638bd0edeba8b
https://doi.org/10.1093/sleepadvances/zpac029.011
https://doi.org/10.1093/sleepadvances/zpac029.011
Autor:
J Callum, Y Bin, N Sarkissian, K Sutherland, A Piper, K Kairaitis, J Wheatley, P de Chazal, B Yee, P Cistulli
Publikováno v:
SLEEP Advances. 3:A4-A4
BACKGROUND Sleepiness is the most common symptom of obstructive sleep apnoea (OSA). Despite this the Epworth Sleepiness Score (ESS) has not been shown to predict OSA severity. We present the preliminary results of a cross-sectional analysis in OSA pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3eb4aa4ef21c885719dac17e235925bf
https://doi.org/10.1093/sleepadvances/zpac029.006
https://doi.org/10.1093/sleepadvances/zpac029.006
Akademický článek
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Autor:
Beat Thöny, Hiu Man Grisch-Chan, Ming Ying, Gabriella Allegri, Cary O. Harding, Shelley R. Winn, Tanja Scherer, Aurora Martinez, Christineh N. Sarkissian, Anahita Rassi
Hyperphenylalaninemia (HPA) caused by hepatic phenylalanine hydroxylase (PAH) deficiency has severe consequences on brain monoamine neurotransmitter metabolism. We have studied monoamine neurotransmitter status and the effect of tetrahydrobiopterin (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f92edb62e1953d35156c94acf0c61b4
https://www.zora.uzh.ch/id/eprint/165254/
https://www.zora.uzh.ch/id/eprint/165254/
Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria
Publikováno v:
Molecular genetics and metabolism. 124(4)
Phenylketonuria (PKU) is a genetic inborn error in metabolism that impacts many people globally, with profound individual and societal consequences when left untreated. The journey of phenylalanine ammonia lyase (PAL) from plant enzyme to enzyme subs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c750b8e3424363c4533c46b85aa13719
https://pubmed.ncbi.nlm.nih.gov/29941359
https://pubmed.ncbi.nlm.nih.gov/29941359
Akademický článek
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Autor:
Raymond C. Stevens, Alejandra Gámez, Tse Siang Kang, Charles R. Scriver, Christineh N. Sarkissian
Publikováno v:
Molecular Genetics and Metabolism. 104:249-254
Phenylketonuria (PKU), a Mendelian autosomal recessive phenotype (OMIM 261600), is an inborn error of metabolism causing impaired postnatal cognitive development in the absence of treatment. We used the Pahenu2/enu2 PKU mouse model to study oral enzy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f55d25c6ccbace53a5b83e57bf74fefd
https://doi.org/10.1016/j.ymgme.2011.06.016
https://doi.org/10.1016/j.ymgme.2011.06.016