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Items: 1 to 20 of 23

1.
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
2.
M.C.G. Otaduy, C.C. Leite, M.T.C. Lacerda, M.O.R. Costa, F. Arita, E. Prado, S. Rosemberg
AJNR Am J Neuroradiol. 2006 Jan; 27(1): 204–207.
PMCID:
PMC7976095
3.
M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert, H. H. Huidekoper, P. Janeiro, J. Kotzka, I. Knerr, P. Labrune, Y. E. Landau, J. G. Langendonk, D. Möslinger, D. Müller-Wieland, E. Murphy, K. Õunap, D. Ramadza, I. A. Rivera, S. Scholl-Buergi, K. M. Stepien, A. Thijs, C. Tran, R. Vara, G. Visser, R. Vos, M. de Vries, S. E. Waisbren, M. M. Welsink-Karssies, S. B. Wortmann, M. Gautschi, E. P. Treacy, G. T. Berry
Orphanet J Rare Dis. 2019; 14: 86. Published online 2019 Apr 27. doi: 10.1186/s13023-019-1047-z
PMCID:
PMC6486996
4.
Linn Salto Mamsen, Thomas W. Kelsey, Erik Ernst, Kirsten Tryde Macklon, Allan Meldgaard Lund, Claus Yding Andersen
J Assist Reprod Genet. 2018 Jul; 35(7): 1209–1217. Published online 2018 May 26. doi: 10.1007/s10815-018-1209-2
PMCID:
PMC6063818
5.
Allison B. Frederick, David J. Cutler, Judith L. Fridovich-Keil
J Inherit Metab Dis.
Published in final edited form as: J Inherit Metab Dis. 2017 Nov; 40(6): 813–821. Published online 2017 Jul 10. doi: 10.1007/s10545-017-0067-x
PMCID:
PMC5656392
6.
Kelly A. Shaw, Jennifer G. Mulle, Michael P. Epstein, Judith L. Fridovich-Keil
JIMD Rep. 2017; 33: 27–32. Published online 2016 Jul 1. doi: 10.1007/8904_2016_575
PMCID:
PMC5413454
7.
Lindsey Welling, Laurie E. Bernstein, Gerard T. Berry, Alberto B. Burlina, François Eyskens, Matthias Gautschi, Stephanie Grünewald, Cynthia S. Gubbels, Ina Knerr, Philippe Labrune, Johanna H. van der Lee, Anita MacDonald, Elaine Murphy, Pat A. Portnoi, Katrin Õunap, Nancy L. Potter, M. Estela Rubio-Gozalbo, Jessica B. Spencer, Inge Timmers, Eileen P. Treacy, Sandra C. Van Calcar, Susan E. Waisbren, Annet M. Bosch, On behalf of the Galactosemia Network (GalNet)
J Inherit Metab Dis. 2017; 40(2): 171–176. Published online 2016 Nov 17. doi: 10.1007/s10545-016-9990-5
PMCID:
PMC5306419
8.
Nancy L. Potter, Yves Nievergelt, Lawrence D. Shriberg
JIMD Rep. 2013; 11: 31–41. Published online 2013 Apr 2. doi: 10.1007/8904_2013_219
PMCID:
PMC3755563
9.
Britt van Erven, Cynthia S Gubbels, Ron J van Golde, Gerard A Dunselman, Josien G Derhaag, Guido de Wert, Joep P Geraedts, Annet M Bosch, Eileen P Treacy, Corrine K Welt, Gerard T Berry, M Estela Rubio-Gozalbo
Orphanet J Rare Dis. 2013; 8: 107. Published online 2013 Jul 16. doi: 10.1186/1750-1172-8-107
PMCID:
PMC3718676
10.
Emily L. Ryan, Mary Ellen Lynch, Elles Taddeo, Tyler J. Gleason, Michael P. Epstein, Judith L. Fridovich-Keil
J Inherit Metab Dis.
Published in final edited form as: J Inherit Metab Dis. 2013 Nov; 36(6): 10.1007/s10545-012-9575-x. Published online 2013 Jan 15. doi: 10.1007/s10545-012-9575-x
PMCID:
PMC3657299
11.
SE Waisbren, NL Potter, CM Gordon, RC Green, P Greenstein, CS Gubbels, E Rubio-Gozalbo, D Schomer, C Welt, V Anastasoaie, K D’Anna, J Gentile, C-Y Guo, L Hecht, R Jackson, BM Jansma, Y Li, V Lip, DT Miller, M Murray, L Power, N Quinn, F Rohr, Y Shen, A Skinder-Meredith, I Timmers, R Tunick, A Wessel, B-L Wu, H Levy, L Elsas, GT Berry
J Inherit Metab Dis.
Published in final edited form as: J Inherit Metab Dis. 2012 Mar; 35(2): 279–286. Published online 2011 Jul 21. doi: 10.1007/s10545-011-9372-y
PMCID:
PMC3641771
12.
Sahin Takci, Sibel Kadayifcilar, Turgay Coskun, Sule Yigit, Burcu Hismi
JIMD Rep. 2012; 5: 89–93. Published online 2011 Dec 11. doi: 10.1007/8904_2011_103
PMCID:
PMC3509908
13.
Yves J. R. Menezo, Maryse Lescaille, Bernard Nicollet, Edouard J. Servy
J Assist Reprod Genet. 2004 Mar; 21(3): 89–90. doi: 10.1023/B:JARG.0000027020.28592.7b
PMCID:
PMC3455405
14.
John I Malone, Alicia Diaz-Thomas, Kathleen Swan
BMJ Case Rep. 2011; 2011: bcr0120113769. Published online 2011 Jun 3. doi: 10.1136/bcr.01.2011.3769
PMCID:
PMC3109760
15.
Cynthia S. Gubbels, Chris M. G. Thomas, Will K. W. H. Wodzig, André J. Olthaar, Jaak Jaeken, Fred C. G. J. Sweep, M. Estela Rubio-Gozalbo
J Inherit Metab Dis. 2011; 34(2): 387–390. Published online 2010 Sep 3. doi: 10.1007/s10545-010-9180-9
PMCID:
PMC3063565
16.
Amber E. ten Hoedt, Heleen Maurice-Stam, Carolien C. A. Boelen, M. Estela Rubio-Gozalbo, Francjan J. van Spronsen, Frits A. Wijburg, Annet M. Bosch, Martha A. Grootenhuis
J Inherit Metab Dis. 2011; 34(2): 391–398. Published online 2011 Feb 3. doi: 10.1007/s10545-010-9267-3
PMCID:
PMC3063540
17.
Judith L. Fridovich-Keil, Cynthia S. Gubbels, Jessica B. Spencer, Rebecca D. Sanders, Jolande A. Land, Estela Rubio-Gozalbo
J Inherit Metab Dis. 2011; 34(2): 357–366. Published online 2010 Oct 27. doi: 10.1007/s10545-010-9221-4
PMCID:
PMC3063539
18.
Tang M, Wierenga K, Elsas LJ, Lai K
Chem Biol Interact.
Published in final edited form as: Chem Biol Interact. 2010 Dec 5; 188(3): 376–385. Published online 2010 Aug 7. doi: 10.1016/j.cbi.2010.07.025
PMCID:
PMC2980576
19.
K Lai, M Tang, X Yin, H Klapper, K Wierenga, LJ Elsas
Biosci Hypotheses.
Published in final edited form as: Biosci Hypotheses. 2008; 1(5): 263–271. doi: 10.1016/j.bihy.2008.06.011
PMCID:
PMC2613282
20.
A Bosch, H Bakker, Wenniger-Pri... L J M de B, R Wanders, F Wijburg
Arch Dis Child. 2004 Nov; 89(11): 1034–1036. doi: 10.1136/adc.2003.037671
PMCID:
PMC1719730

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