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

Year Number of Results
1969 3
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1984 1
1991 1
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1993 2
1994 2
1995 4
1996 4
1997 6
1998 2
1999 5
2000 3
2001 4
2003 2
2004 3
2005 1
2006 1
2007 2
2008 6
2009 5
2010 4
2011 8
2012 6
2013 9
2014 5
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130 results

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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.
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Among authors: treacy ep. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.
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.
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.
The hypergonadotropic hypogonadism conundrum of classic galactosemia.
Derks B, Rivera-Cruz G, Hagen-Lillevik S, Vos EN, Demirbas D, Lai K, Treacy EP, Levy HL, Wilkins-Haug LE, Rubio-Gozalbo ME, Berry GT. Derks B, et al. Among authors: treacy ep. Hum Reprod Update. 2023 Mar 1;29(2):246-258. doi: 10.1093/humupd/dmac041. Hum Reprod Update. 2023. PMID: 36512573 Free PMC article.
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.
130 results