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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 3
1995 2
1996 1
1997 2
1998 3
2001 4
2002 4
2003 3
2004 3
2005 8
2006 5
2007 10
2008 7
2009 8
2010 6
2011 6
2012 4
2013 4
2014 7
2015 7
2016 7
2017 7
2018 7
2019 7
2020 3
2021 5
2022 12
2023 8
2024 2

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138 results

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Page 1
[Imerslund-Gräsbeck syndrome].
Choquet P, Levrat V, Pondarre C, Vianney C, Guffon N. Choquet P, et al. Among authors: guffon n. Arch Pediatr. 2009 Dec;16(12):1559-61. doi: 10.1016/j.arcped.2009.09.010. Epub 2009 Oct 23. Arch Pediatr. 2009. PMID: 19854032 French.
Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D; HGT-HIT-094 Study Group. Muenzer J, et al. Among authors: guffon n. Mol Genet Metab. 2022 Sep-Oct;137(1-2):127-139. doi: 10.1016/j.ymgme.2022.07.017. Epub 2022 Aug 2. Mol Genet Metab. 2022. PMID: 36027721 Free PMC article. Clinical Trial.
Improving diagnosis of mitochondrial fatty-acid oxidation disorders.
Vianey-Saban C, Fouilhoux A, Vockley J, Acquaviva-Bourdain C, Guffon N. Vianey-Saban C, et al. Among authors: guffon n. Eur J Hum Genet. 2023 Mar;31(3):265-272. doi: 10.1038/s41431-022-01260-1. Epub 2023 Jan 5. Eur J Hum Genet. 2023. PMID: 36599942 Free PMC article. No abstract available.
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry.
Hopkin RJ, Cabrera GH, Jefferies JL, Yang M, Ponce E, Brand E, Feldt-Rasmussen U, Germain DP, Guffon N, Jovanovic A, Kantola I, Karaa A, Martins AM, Tøndel C, Wilcox WR, Yoo HW, Burlina AP, Mauer M. Hopkin RJ, et al. Among authors: guffon n. Mol Genet Metab. 2023 Feb;138(2):106967. doi: 10.1016/j.ymgme.2022.106967. Epub 2022 Nov 30. Mol Genet Metab. 2023. PMID: 36709533 Free article.
Multidisciplinary management of Hunter syndrome.
Muenzer J, Beck M, Eng CM, Escolar ML, Giugliani R, Guffon NH, Harmatz P, Kamin W, Kampmann C, Koseoglu ST, Link B, Martin RA, Molter DW, Muñoz Rojas MV, Ogilvie JW, Parini R, Ramaswami U, Scarpa M, Schwartz IV, Wood RE, Wraith E. Muenzer J, et al. Among authors: guffon nh. Pediatrics. 2009 Dec;124(6):e1228-39. doi: 10.1542/peds.2008-0999. Epub 2009 Nov 9. Pediatrics. 2009. PMID: 19901005 Review.
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Diaz GA, Giugliani R, Guffon N, Jones SA, Mengel E, Scarpa M, Witters P, Yarramaneni A, Li J, Armstrong NM, Kim Y, Ortemann-Renon C, Kumar M. Diaz GA, et al. Among authors: guffon n. Orphanet J Rare Dis. 2022 Dec 14;17(1):437. doi: 10.1186/s13023-022-02587-0. Orphanet J Rare Dis. 2022. PMID: 36517856 Free PMC article.
Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa.
Mitchell JJ, Burton BK, Bober MB, Campeau PM, Cohen S, Dosenovic S, Ellaway C, Bhattacharya K, Guffon N, Hinds D, Lail A, Lin SP, Magner M, Raiman J, Schwartz-Sagi L, Stepien KM. Mitchell JJ, et al. Among authors: guffon n. Mol Genet Metab. 2022 Sep-Oct;137(1-2):164-172. doi: 10.1016/j.ymgme.2022.08.007. Epub 2022 Aug 30. Mol Genet Metab. 2022. PMID: 36087504 Free article.
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.
Kuiper GA, Langereis EJ, Breyer S, Carbone M, Castelein RM, Eastwood DM, Garin C, Guffon N, van Hasselt PM, Hensman P, Jones SA, Kenis V, Kruyt M, van der Lee JH, Mackenzie WG, Orchard PJ, Oxborrow N, Parini R, Robinson A, Schubert Hjalmarsson E, White KK, Wijburg FA. Kuiper GA, et al. Among authors: guffon n. Orphanet J Rare Dis. 2019 Jan 18;14(1):17. doi: 10.1186/s13023-019-0997-5. Orphanet J Rare Dis. 2019. PMID: 30658664 Free PMC article. Review.
138 results