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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 1

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137 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.
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.
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.
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.
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.
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.
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Parini R, Broomfield A, Cleary MA, De Meirleir L, Di Rocco M, Fathalla WM, Guffon N, Lampe C, Lund AM, Scarpa M, Tylki-Szymańska A, Zeman J. Parini R, et al. Among authors: guffon n. Acta Paediatr. 2018 Dec;107(12):2059-2065. doi: 10.1111/apa.14587. Epub 2018 Oct 23. Acta Paediatr. 2018. PMID: 30242902 Free PMC article. Review.
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
Muenzer J, Jones SA, Tylki-Szymańska A, Harmatz P, Mendelsohn NJ, Guffon N, Giugliani R, Burton BK, Scarpa M, Beck M, Jangelind Y, Hernberg-Stahl E, Larsen MP, Pulles T, Whiteman DAH. Muenzer J, et al. Among authors: guffon n. Orphanet J Rare Dis. 2017 May 2;12(1):82. doi: 10.1186/s13023-017-0635-z. Orphanet J Rare Dis. 2017. PMID: 28464912 Free PMC article. Review.
137 results