Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Yusof RA"'
Autor:
Xi May Zhen, Stephen M. Twigg, Ted Wu, Eddy Tabet, Margaret J. McGill, Maria Constantino, Amali Mallawaarachchi, Connie Luo, Senthil Thillainadesan, Yusof Rahman, Jencia Wong
Publikováno v:
Clinical Diabetes and Endocrinology, Vol 10, Iss 1, Pp 1-8 (2024)
Abstract Background Diabetes presenting in young adults is often challenging to classify. Diabetic ketoacidosis is typically seen in autoimmune type 1 diabetes mellitus and more rarely in young onset type 2 diabetes mellitus. Beta-ketothiolase defici
Externí odkaz:
https://doaj.org/article/026c3292ca334d29ac0d8d390c334b7e
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 12 (2024)
Abstract Fabry disease is a rare X-linked lysosomal storage disorder that causes progressive cellular accumulation of glycosphingolipids, leading to various end-organ manifestations such as chronic kidney disease and cardiomyopathy. Currently, tropon
Externí odkaz:
https://doaj.org/article/76d3ccc56f0947d09688fb54cbf6797d
Autor:
Timothy Nicholas Fazio, Louise Healy, Tim Heise, Anita Inwood, Catherine Manolikos, Yusof Rahman, Hans-Juergen Woerle, Christian J. Hendriksz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101012- (2023)
The cornerstone treatment of hyperphenylalaninemia (HPA) and phenylketonuria (PKU) is a lifelong low-protein diet with phenylalanine (Phe) free L-amino acid supplements. However, the PKU diet has significant shortcomings, and there is a clinically un
Externí odkaz:
https://doaj.org/article/e8398e8fcb364d829a0c08abebf5f4a0
Autor:
Bindu Parayil Sankaran, Sachin Gupta, Michel Tchan, Beena Devanapalli, Yusof Rahman, Peter Procopis, Kaustuv Bhattacharya
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract Background Identification and characterisation of monogenic causes of complex neurological phenotypes are important for genetic counselling and prognostication. Bi-allelic pathogenic variants in the gene encoding GLRX5, a protein involved in
Externí odkaz:
https://doaj.org/article/ae0e69e797854fe5a5b73d0e5e8ba192
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:
Colm J. McGinnity, Daniela A. Riaño Barros, Eric Guedj, Nadine Girard, Christopher Symeon, Helen Walker, Sally F. Barrington, Mary Summers, Mervi Pitkanen, Yusof Rahman
Publikováno v:
Frontiers in Neuroscience, Vol 15 (2021)
We retrospectively examined the relationship between blood biomarkers, in particular the historical mean phenylalanine to tyrosine (Phe:Tyr) ratio, and cerebral glucose metabolism. We hypothesized that the historical mean Phe:Tyr ratio would be more
Externí odkaz:
https://doaj.org/article/608ffd9e583b44be95a6b06cef7a8413
Autor:
Julian F Guest, Andy Ingram, Nadia Ayoub, Christian J Hendriksz, Elaine Murphy, Yusof Rahman, Patrick McKiernan, Helen Mundy, Patrick Deegan
Publikováno v:
PLoS ONE, Vol 13, Iss 2, p e0191945 (2018)
To estimate clinical progression and resource utilisation together with the associated costs of managing children and adults with LAL Deficiency, at a tertiary referral centre in the UK.A retrospective chart review was undertaken of patients in the U
Externí odkaz:
https://doaj.org/article/43ebc73578ac475b9c6867c89becb963
Autor:
Stefan Coassin, Martina Schweiger, Anita Kloss-Brandstätter, Claudia Lamina, Margot Haun, Gertraud Erhart, Bernhard Paulweber, Yusof Rahman, Simon Olpin, Heimo Wolinski, Irina Cornaciu, Rudolf Zechner, Robert Zimmermann, Florian Kronenberg
Publikováno v:
PLoS Genetics, Vol 6, Iss 12, p e1001239 (2010)
Recent studies demonstrated a strong influence of rare genetic variants on several lipid-related traits. However, their impact on free fatty acid (FFA) plasma concentrations, as well as the role of rare variants in a general population, has not yet b
Externí odkaz:
https://doaj.org/article/5e40b6440b004fd2942f202d55000746
Autor:
Asha'ari ZA (AUTHOR), Ahmad R (AUTHOR), Rahman J (AUTHOR), Yusof RA (AUTHOR), Kamarudin N (AUTHOR)
Publikováno v:
Auris Nasus Larynx. Apr2012, Vol. 39 Issue 2, p151-155. 5p.
Autor:
Koh KC; International Medical University, Department of Medicine, Seremban, Negeri Sembilan, Malaysia. kweechoy_koh@imu.edu.my., Islam M; International Medical University, Department of Medicine, Seremban, Negeri Sembilan, Malaysia., Chan WK; International Medical University, Department of Medicine, Seremban, Negeri Sembilan, Malaysia., Lee WY; International Medical University, Department of Medicine, Seremban, Negeri Sembilan, Malaysia., Ho YW; International Medical University, Department of Medicine, Seremban, Negeri Sembilan, Malaysia., Alsagoff SAH; International Medical University, Department of Medicine, Seremban, Negeri Sembilan, Malaysia., Yusof RA; Hospital Tuanku Ja'afar, Department of Medicine, Seremban, Negeri Sembilan, Malaysia.
Publikováno v:
The Medical journal of Malaysia [Med J Malaysia] 2017 Aug; Vol. 72 (4), pp. 209-214.