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Results by year

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

Year Number of Results
1975 1
1977 1
1979 1
1980 1
1981 3
1982 2
1983 2
1984 4
1985 3
1986 2
1987 2
1988 2
1989 10
1990 8
1991 6
1992 6
1993 2
1994 6
1995 1
1996 4
1997 6
1998 6
1999 5
2000 5
2001 5
2002 16
2003 7
2004 9
2005 6
2006 9
2007 4
2008 9
2009 7
2010 8
2011 12
2012 9
2013 6
2014 9
2015 7
2016 8
2017 6
2018 2
2019 7
2020 7
2021 6
2022 6
2023 4
2024 3

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Search Results

241 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. 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.
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J. Derks TGJ, et al. Nutrients. 2021 Oct 27;13(11):3828. doi: 10.3390/nu13113828. Nutrients. 2021. PMID: 34836082 Free PMC article. Review.
Gene Therapy in Patients with the Crigler-Najjar Syndrome.
D'Antiga L, Beuers U, Ronzitti G, Brunetti-Pierri N, Baumann U, Di Giorgio A, Aronson S, Hubert A, Romano R, Junge N, Bosma P, Bortolussi G, Muro AF, Soumoudronga RF, Veron P, Collaud F, Knuchel-Legendre N, Labrune P, Mingozzi F. D'Antiga L, et al. N Engl J Med. 2023 Aug 17;389(7):620-631. doi: 10.1056/NEJMoa2214084. N Engl J Med. 2023. PMID: 37585628 Clinical Trial.
Molecular Classification of Hepatocellular Adenoma Associates With Risk Factors, Bleeding, and Malignant Transformation.
Nault JC, Couchy G, Balabaud C, Morcrette G, Caruso S, Blanc JF, Bacq Y, Calderaro J, Paradis V, Ramos J, Scoazec JY, Gnemmi V, Sturm N, Guettier C, Fabre M, Savier E, Chiche L, Labrune P, Selves J, Wendum D, Pilati C, Laurent A, De Muret A, Le Bail B, Rebouissou S, Imbeaud S; GENTHEP Investigators; Bioulac-Sage P, Letouzé E, Zucman-Rossi J. Nault JC, et al. Gastroenterology. 2017 Mar;152(4):880-894.e6. doi: 10.1053/j.gastro.2016.11.042. Epub 2016 Dec 7. Gastroenterology. 2017. PMID: 27939373 Free article.
Théâtre des disputes.
Manco C, Labrune P, Mairey A. Manco C, et al. Rev Synth. 2016 Dec;137(3-4):479-497. doi: 10.1007/s11873-016-0310-x. Rev Synth. 2016. PMID: 28205092 French. No abstract available.
Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P. Froissart R, et al. Orphanet J Rare Dis. 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. Orphanet J Rare Dis. 2011. PMID: 21599942 Free PMC article. Review.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
van Karnebeek CDM, Tarailo-Graovac M, Leen R, Meinsma R, Correard S, Jansen-Meijer J, Prykhozhij SV, Pena IA, Ban K, Schock S, Saxena V, Pras-Raves ML, Drögemöller BI, Grootemaat AE, van der Wel NN, Dobritzsch D, Roseboom W, Schomakers BV, Jaspers YRJ, Zoetekouw L, Roelofsen J, Ferreira CR, van der Lee R, Ross CJ, Kochan J, McIntyre RL, van Klinken JB, van Weeghel M, Kramer G, Weschke B, Labrune P, Willemsen MA, Riva D, Garavaglia B, Moeschler JB, Filiano JJ, Ekker M, Berman JN, Dyment D, Vaz FM, Wasserman WW, Houtkooper RH, van Kuilenburg ABP. van Karnebeek CDM, et al. Genet Med. 2024 Jun;26(6):101104. doi: 10.1016/j.gim.2024.101104. Epub 2024 Feb 24. Genet Med. 2024. PMID: 38411040 Free article.
[Hepatomegaly: diagnosis approach].
Labrune P, Trioche-Eberschweiler P, Mollet-Boudjemline A, Gajdos V. Labrune P, et al. Arch Pediatr. 2007 Jun;14(6):573-5. doi: 10.1016/j.arcped.2007.02.025. Epub 2007 Mar 27. Arch Pediatr. 2007. PMID: 17391943 French. No abstract available.
Puberty and fertility in classic galactosemia.
Flechtner I, Viaud M, Kariyawasam D, Perrissin-Fabert M, Bidet M, Bachelot A, Touraine P, Labrune P, de Lonlay P, Polak M. Flechtner I, et al. Endocr Connect. 2021 Feb;10(2):240-247. doi: 10.1530/EC-21-0013. Endocr Connect. 2021. PMID: 33491660 Free PMC article.
241 results