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71 results

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Page 1
Burosumab Therapy in Children with X-Linked Hypophosphatemia.
Carpenter TO, Whyte MP, Imel EA, Boot AM, Högler W, Linglart A, Padidela R, Van't Hoff W, Mao M, Chen CY, Skrinar A, Kakkis E, San Martin J, Portale AA. Carpenter TO, et al. Among authors: kakkis e. N Engl J Med. 2018 May 24;378(21):1987-1998. doi: 10.1056/NEJMoa1714641. N Engl J Med. 2018. PMID: 29791829 Free article. Clinical Trial.
Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study.
Argov Z, Caraco Y, Lau H, Pestronk A, Shieh PB, Skrinar A, Koutsoukos T, Ahmed R, Martinisi J, Kakkis E. Argov Z, et al. Among authors: kakkis e. J Neuromuscul Dis. 2016 Mar 3;3(1):49-66. doi: 10.3233/JND-159900. J Neuromuscul Dis. 2016. PMID: 27854209 Free PMC article. Clinical Trial.
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).
Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Bowden A, Chen W, Chen CY, Cataldo J, Marsden D, Kakkis E. Vockley J, et al. Among authors: kakkis e. J Inherit Metab Dis. 2019 Jan;42(1):169-177. doi: 10.1002/jimd.12038. J Inherit Metab Dis. 2019. PMID: 30740733 Free PMC article. Clinical Trial.
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.
Pogoryelova O, Cammish P, Mansbach H, Argov Z, Nishino I, Skrinar A, Chan Y, Nafissi S, Shamshiri H, Kakkis E, Lochmüller H. Pogoryelova O, et al. Among authors: kakkis e. Neuromuscul Disord. 2018 Feb;28(2):158-168. doi: 10.1016/j.nmd.2017.11.001. Epub 2017 Nov 14. Neuromuscul Disord. 2018. PMID: 29305133 Free PMC article.
A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.
Lochmüller H, Behin A, Caraco Y, Lau H, Mirabella M, Tournev I, Tarnopolsky M, Pogoryelova O, Woods C, Lai A, Shah J, Koutsoukos T, Skrinar A, Mansbach H, Kakkis E, Mozaffar T. Lochmüller H, et al. Among authors: kakkis e. Neurology. 2019 Apr 30;92(18):e2109-e2117. doi: 10.1212/WNL.0000000000006932. Epub 2019 Jan 25. Neurology. 2019. PMID: 31036580 Free PMC article. Clinical Trial.
Enzyme-replacement therapy in mucopolysaccharidosis I.
Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, Izykowski B, Phillips J, Doroshow R, Walot I, Hoft R, Neufeld EF. Kakkis ED, et al. N Engl J Med. 2001 Jan 18;344(3):182-8. doi: 10.1056/NEJM200101183440304. N Engl J Med. 2001. PMID: 11172140 Free article. Clinical Trial.
UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment.
Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Humphrey R, Mayhew J, Bowden A, Zhang L, Cataldo J, Marsden DL, Kakkis E. Vockley J, et al. Among authors: kakkis e. Mol Genet Metab. 2017 Apr;120(4):370-377. doi: 10.1016/j.ymgme.2017.02.005. Epub 2017 Feb 7. Mol Genet Metab. 2017. PMID: 28189603 Free article. Clinical Trial.
71 results