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76 results

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Page 1
Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.
Broomfield A, Davison J, Roberts J, Stewart C, Hensman P, Beesley C, Tylee K, Rust S, Schwahn B, Jameson E, Vijay S, Santra S, Sreekantam S, Ramaswami U, Chakrapani A, Raiman J, Cleary MA, Jones SA. Broomfield A, et al. Among authors: raiman j. Mol Genet Metab. 2020 Feb;129(2):98-105. doi: 10.1016/j.ymgme.2019.07.016. Epub 2019 Jul 30. Mol Genet Metab. 2020. PMID: 31383595
Glycogen storage disease type IX: High variability in clinical phenotype.
Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M. Beauchamp NJ, et al. Among authors: raiman j. Mol Genet Metab. 2007 Sep-Oct;92(1-2):88-99. doi: 10.1016/j.ymgme.2007.06.007. Epub 2007 Aug 3. Mol Genet Metab. 2007. PMID: 17689125
Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.
Hendriksz CJ, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R, Hughes D, Pastores GM, Lau HA, Al-Sayed MD, Raiman J; STRIVE Investigators; Yang K, Mealiffe M, Haller C. Hendriksz CJ, et al. Among authors: raiman j. Mol Genet Metab. 2015 Feb;114(2):178-85. doi: 10.1016/j.ymgme.2014.08.012. Epub 2014 Sep 6. Mol Genet Metab. 2015. PMID: 25284089 Free article. Clinical Trial.
Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II.
Yund B, Rudser K, Ahmed A, Kovac V, Nestrasil I, Raiman J, Mamak E, Harmatz P, Steiner R, Lau H, Vekaria P, Wozniak JR, Lim KO, Delaney K, Whitley C, Shapiro EG. Yund B, et al. Among authors: raiman j. Mol Genet Metab. 2015 Feb;114(2):170-7. doi: 10.1016/j.ymgme.2014.12.299. Epub 2014 Dec 9. Mol Genet Metab. 2015. PMID: 25541100 Free PMC article. Clinical Trial.
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.
Shapiro EG, Nestrasil I, Rudser K, Delaney K, Kovac V, Ahmed A, Yund B, Orchard PJ, Eisengart J, Niklason GR, Raiman J, Mamak E, Cowan MJ, Bailey-Olson M, Harmatz P, Shankar SP, Cagle S, Ali N, Steiner RD, Wozniak J, Lim KO, Whitley CB. Shapiro EG, et al. Among authors: raiman j. Mol Genet Metab. 2015 Sep-Oct;116(1-2):61-8. doi: 10.1016/j.ymgme.2015.06.002. Epub 2015 Jun 17. Mol Genet Metab. 2015. PMID: 26095521 Free PMC article. Clinical Trial.
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.
Jones SA, Valayannopoulos V, Schneider E, Eckert S, Banikazemi M, Bialer M, Cederbaum S, Chan A, Dhawan A, Di Rocco M, Domm J, Enns GM, Finegold D, Gargus JJ, Guardamagna O, Hendriksz C, Mahmoud IG, Raiman J, Selim LA, Whitley CB, Zaki O, Quinn AG. Jones SA, et al. Among authors: raiman j. Genet Med. 2016 May;18(5):452-8. doi: 10.1038/gim.2015.108. Epub 2015 Aug 27. Genet Med. 2016. PMID: 26312827 Free PMC article.
Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.
Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Solano Villarreal ML, Mitchell JJ, Burton BK, Guelbert N, Stewart F, Hughes DA, Berger KI, Slasor P, Matousek R, Jurecki E, Shaywitz AJ, Harmatz PR. Hendriksz CJ, et al. Among authors: raiman j. Mol Genet Metab. 2016 Sep;119(1-2):131-43. doi: 10.1016/j.ymgme.2016.05.018. Epub 2016 Jun 16. Mol Genet Metab. 2016. PMID: 27380995 Free article. Clinical Trial.
How to use a controlled fast to investigate hypoglycaemia.
Sreekantam S, Preece MA, Vijay S, Raiman J, Santra S. Sreekantam S, et al. Among authors: raiman j. Arch Dis Child Educ Pract Ed. 2017 Feb;102(1):28-36. doi: 10.1136/archdischild-2015-308702. Epub 2016 Aug 24. Arch Dis Child Educ Pract Ed. 2017. PMID: 27557839 Review.
Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.
Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Guelbert N, Stewart FJ, Hughes DA, Matousek R, Hawley SM, Decker C, Harmatz PR. Hendriksz CJ, et al. Among authors: raiman j. Mol Genet Metab. 2018 Feb;123(2):127-134. doi: 10.1016/j.ymgme.2017.11.015. Epub 2017 Dec 5. Mol Genet Metab. 2018. PMID: 29248359 Free article. Clinical Trial.
76 results