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

Year Number of Results
1991 1
1995 1
1997 2
1998 1
1999 5
2000 3
2001 3
2003 1
2004 3
2005 1
2006 1
2007 1
2008 5
2009 4
2010 2
2011 5
2012 5
2013 5
2014 3
2015 4
2016 6
2017 6
2018 6
2019 6
2020 6
2021 4
2022 1
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Search Results

73 results
Results by year
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Page 1
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). Welling L, et al. Among authors: treacy ep. J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. J Inherit Metab Dis. 2017. PMID: 27858262 Free PMC article. Review.
Galactokinase deficiency: lessons from the GalNet registry.
Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Möslinger D, Couce ML, Empain A, Ficicioglu C, Juliá Palacios N, De Los Santos De Pelegrin MM, Rivera IA, Scholl-Bürgi S, Bosch AM, Cassiman D, Demirbas D, Gautschi M, Knerr I, Labrune P, Skouma A, Verloo P, Wortmann SB, Treacy EP, Timson DJ, Berry GT. Rubio-Gozalbo ME, et al. Among authors: treacy ep. Genet Med. 2021 Jan;23(1):202-210. doi: 10.1038/s41436-020-00942-9. Epub 2020 Aug 18. Genet Med. 2021. PMID: 32807972 Free PMC article.
Impact of trimethylaminuria on daily psychosocial functioning.
Roddy D, McCarthy P, Nerney D, Mulligan-Rabbitt J, Smith E, Treacy EP. Roddy D, et al. Among authors: treacy ep. JIMD Rep. 2020 Oct 6;57(1):67-75. doi: 10.1002/jmd2.12170. eCollection 2021 Jan. JIMD Rep. 2020. PMID: 33473342 Free PMC article.
The galactosemia network (GalNet).
Rubio-Gozalbo ME, Bosch AM, Burlina A, Berry GT, Treacy EP; Steering Committee on behalf of all Galactosemia Network representatives. Rubio-Gozalbo ME, et al. Among authors: treacy ep. J Inherit Metab Dis. 2017 Mar;40(2):169-170. doi: 10.1007/s10545-016-9989-y. Epub 2016 Nov 11. J Inherit Metab Dis. 2017. PMID: 27837294 No abstract available.
Fertility preservation in female classic galactosemia patients.
van Erven B, Gubbels CS, van Golde RJ, Dunselman GA, Derhaag JG, de Wert G, Geraedts JP, Bosch AM, Treacy EP, Welt CK, Berry GT, Rubio-Gozalbo ME. van Erven B, et al. Among authors: treacy ep. Orphanet J Rare Dis. 2013 Jul 16;8:107. doi: 10.1186/1750-1172-8-107. Orphanet J Rare Dis. 2013. PMID: 23866841 Free PMC article. Review.
Is there treatment for "genetic" disease?
Scriver CR, Treacy EP. Scriver CR, et al. Among authors: treacy ep. Mol Genet Metab. 1999 Oct;68(2):93-102. doi: 10.1006/mgme.1999.2907. Mol Genet Metab. 1999. PMID: 10527662 Review. No abstract available.
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.
Welsink-Karssies MM, Ferdinandusse S, Geurtsen GJ, Hollak CEM, Huidekoper HH, Janssen MCH, Langendonk JG, van der Lee JH, O'Flaherty R, Oostrom KJ, Roosendaal SD, Rubio-Gozalbo ME, Saldova R, Treacy EP, Vaz FM, de Vries MC, Engelen M, Bosch AM. Welsink-Karssies MM, et al. Among authors: treacy ep. Brain Commun. 2020 Jan 29;2(1):fcaa006. doi: 10.1093/braincomms/fcaa006. eCollection 2020. Brain Commun. 2020. PMID: 32954279 Free PMC article.
The role of primary care in management of rare diseases in Ireland.
Byrne N, Turner J, Marron R, Lambert DM, Murphy DN, O'Sullivan G, Mason M, Broderick F, Burke MC, Casey S, Doyle M, Gibney D, Mason F, Molony D, Ormond D, O' Sé C, O'Shea C, Treacy EP. Byrne N, et al. Among authors: treacy ep. Ir J Med Sci. 2020 Aug;189(3):771-776. doi: 10.1007/s11845-019-02168-4. Epub 2020 Jan 13. Ir J Med Sci. 2020. PMID: 31933130 Free PMC article.
73 results