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Creatine deficiency syndromes: diagnostic pearls and pitfalls.
Hinnell C, Samuel M, Alkufri F, Ashkan K, Rahman Y, Turner C, Dalton RN, Nashef L. Hinnell C, et al. Among authors: rahman y. Can J Neurol Sci. 2011 Sep;38(5):765-7. doi: 10.1017/s0317167100054160. Can J Neurol Sci. 2011. PMID: 21856584 No abstract available.
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.
van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, De Laet C, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Bierau J, van Hasselt PM, Gissen P, Goyens PJ, McKiernan PJ, Wilcox G, Morris AAM, Jameson EA, Huijbregts SCJ, van Spronsen FJ. van Vliet K, et al. Among authors: rahman y. Orphanet J Rare Dis. 2019 Dec 4;14(1):285. doi: 10.1186/s13023-019-1259-2. Orphanet J Rare Dis. 2019. PMID: 31801588 Free PMC article.
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, Santra S, De Laet C, Goyens PJ, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Gissen P, Bierau J, van Hasselt PM, Wilcox G, Morris AAM, Jameson EA, de la Parra A, Arias C, Garcia MI, Cornejo V, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ, van Spronsen FJ. van Vliet K, et al. Among authors: rahman y. J Inherit Metab Dis. 2022 Sep;45(5):952-962. doi: 10.1002/jimd.12528. Epub 2022 Jun 30. J Inherit Metab Dis. 2022. PMID: 35722880 Free PMC article.
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Baruteau J, Jameson E, Morris AA, Chakrapani A, Santra S, Vijay S, Kocadag H, Beesley CE, Grunewald S, Murphy E, Cleary M, Mundy H, Abulhoul L, Broomfield A, Lachmann R, Rahman Y, Robinson PH, MacPherson L, Foster K, Chong WK, Ridout DA, Bounford KM, Waddington SN, Mills PB, Gissen P, Davison JE. Baruteau J, et al. Among authors: rahman y. J Inherit Metab Dis. 2017 May;40(3):357-368. doi: 10.1007/s10545-017-0022-x. Epub 2017 Mar 1. J Inherit Metab Dis. 2017. PMID: 28251416 Free PMC article.
Nutritional and Metabolic Characteristics of UK Adult Phenylketonuria Patients with Varying Dietary Adherence.
Green B, Browne R, Firman S, Hill M, Rahman Y, Kaalund Hansen K, Adam S, Skeath R, Hallam P, Herlihy I, Jenkinson F, Nicol C, Adams S, Gaff L, Donald S, Dawson C, Robertson L, Fitzachary C, Chan H, Slabbert A, Dunlop C, Cozens A, Newby C, Bittle V, Hubbard G, Stratton R. Green B, et al. Among authors: rahman y. Nutrients. 2019 Oct 14;11(10):2459. doi: 10.3390/nu11102459. Nutrients. 2019. PMID: 31615158 Free PMC article.
A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemia.
McGinnity CJ, Riaño Barros DA, Guedj E, Girard N, Symeon C, Walker H, Barrington SF, Summers M, Pitkanen M, Rahman Y. McGinnity CJ, et al. Among authors: rahman y. Front Neurosci. 2021 Jun 17;15:664525. doi: 10.3389/fnins.2021.664525. eCollection 2021. Front Neurosci. 2021. PMID: 34220424 Free PMC article.
151 results