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29 results for Galactosemias+-+physiopathology

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Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities
Author / Creator:Thakur, Mili ; Feldman, Gerald ; Puscheck, Elizabeth E.
Publisher:New York: Springer US
Journal title:Journal of assisted reproduction and genetics, 2018-01, Vol.35 (1), p.3-16
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White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging
Author / Creator:Timmers, Inge ; Zhang, Hui ; Bastiani, Matteo ; Jansma, Bernadette M. ; Roebroeck, Alard ; Rubio-Gozalbo, M. Estela
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.295-304
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Cryopreservation of ovarian tissue may be considered in young girls with galactosemia
Author / Creator:Mamsen, Linn Salto ; Kelsey, Thomas W. ; Ernst, Erik ; Macklon, Kirsten Tryde ; Lund, Allan Meldgaard ; Andersen, Claus Yding
Publisher:New York: Springer US
Journal title:Journal of assisted reproduction and genetics, 2018-07, Vol.35 (7), p.1209-1217
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Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with cl...
Author / Creator:Frederick, Allison B. ; Cutler, David J. ; Fridovich-Keil, Judith L.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-11, Vol.40 (6), p.813-821
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Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions
Author / Creator:Colhoun, Hugh-Owen ; Rubio Gozalbo, Estela M. ; Bosch, Annet M. ; Knerr, Ina ; Dawson, Charlotte ; Brady, Jennifer ; Galligan, Marie ; Stepien, Karolina ; O’Flaherty, Roisin ; Catherine Moss, C. ; Peter Barker, P. ; Fitzgibbon, Maria ; Doran, Peter P. ; Treacy, Eileen P.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-09, Vol.13 (1), p.164-164, Article 164
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Abnormalities of retinal metabolism in diabetes and experimental galactosemia VII. Effect of long-term administration of antioxidants on the development of retinopathy
Author / Creator:KOWLURU, Renu A ; JIE TANG ; KERN, Timothy S
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes (New York, N.Y.), 2001-08, Vol.50 (8), p.1938-1942
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Therapies for galactosemia: a patent landscape
Author / Creator:Timson, David J
Publisher:England: Newlands Press Ltd
Journal title:Pharmaceutical patent analyst, 2020-05, Vol.9 (2), p.45-51
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Living With Classical Galactosemia: Health-Related Quality of Life Consequences
Author / Creator:Bosch, Annet M ; Grootenhuis, Martha A ; Bakker, Henk D ; Heijmans, Hugo S.A ; Wijburg, Frits A ; Last, Bob F
Publisher:United States: Am Acad Pediatrics
Journal title:Pediatrics (Evanston), 2004-05, Vol.113 (5), p.e423-e428
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From Mind to Mouth: Event Related Potentials of Sentence Production in Classic Galactosemia
Author / Creator:Timmers, Inge ; Jansma, Bernadette M. ; Rubio-Gozalbo, M. Estela
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-12, Vol.7 (12), p.e52826-e52826
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Skeletal health in adult patients with classic galactosemia
Author / Creator:Batey, L. A. ; Welt, C. K. ; Rohr, F. ; Wessel, A. ; Anastasoaie, V. ; Feldman, H. A. ; Guo, C.-Y. ; Rubio-Gozalbo, E. ; Berry, G. ; Gordon, C. M.
Publisher:London: Springer-Verlag
Journal title:Osteoporosis international, 2013-02, Vol.24 (2), p.501-509
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The male reproductive system in classic galactosemia: cryptorchidism and low semen volume
Author / Creator:Gubbels, Cynthia S. ; Welt, Corrine K. ; Dumoulin, John C. M. ; Robben, Simon G. F. ; Gordon, Catherine M. ; Dunselman, Gerard A. J. ; Rubio-Gozalbo, M. Estela ; Berry, Gerard T.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2013-09, Vol.36 (5), p.779-786
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Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion
Author / Creator:Gubbels, Cynthia S. ; Land, Jolande A. ; Evers, Johannes L. H. ; Bierau, Jörgen ; Menheere, Paul P. C. A. ; Robben, Simon G. F. ; Rubio-Gozalbo, M. Estela
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2013-01, Vol.36 (1), p.29-34
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Monitoring of Biochemical Status in Children with Duarte Galactosemia: Utility of Galactose, Galactitol, Galactonate, and Galactose 1-Phosphate
Author / Creator:Ficicioglu, Can ; Hussa, Christie ; Gallagher, Paul R ; Thomas, Nina ; Yager, Claire
Publisher:Washington, DC: American Association for Clinical Chemistry
Journal title:Clinical chemistry (Baltimore, Md.), 2010-07, Vol.56 (7), p.1177-1182
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Correlates of language impairment in children with galactosaemia
Author / Creator:Potter, N. L. ; Lazarus, J.-A. C. ; Johnson, J. M. ; Steiner, R. D. ; Shriberg, L. D.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2008-08, Vol.31 (4), p.524-532
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Remarkable differences: the course of life of young adults with galactosaemia and PKU
Author / Creator:Bosch, A. M ; Maurice-Stam, H ; Wijburg, F. A ; Grootenhuis, M. A
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2009-12, Vol.32 (6), p.706-712
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Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions
Author / Creator:Timmers, Inge ; van den Hurk, Job ; Di Salle, Francesco ; Rubio-Gozalbo, M. Estela ; Jansma, Bernadette M.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2011-04, Vol.34 (2), p.367-376
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Duarte Galactosemia: How Sweet Is It?
Author / Creator:Fernhoff, Paul M
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2010-07, Vol.56 (7), p.1045-1046
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Mediators of a long-term movement abnormality in a Drosophila melanogaster model of classic galactosemia
Author / Creator:Ryan, Emily L. ; DuBoff, Brian ; Feany, Mel B. ; Fridovich-Keil, Judith L.
Publisher:England: The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2012-11, Vol.5 (6), p.796-803
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Clinical features of galactokinase deficiency: A review of the literature
Author / Creator:BOSCH, A. M ; BAKKER, H. D ; VAN GENNIP, A. H ; VAN KEMPEN, J. V ; WANDERS, R. J. A ; WIJBURG, F. A
Publisher:Dordrecht: Springer
Journal title:Journal of inherited metabolic disease, 2002-12, Vol.25 (8), p.629-634
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Growth in treated classical galactosemia patients
Author / Creator:Panis, Bianca ; Gerver, Willem-Jan M. ; Rubio-Gozalbo, M. Estela
Publisher:Heidelberg: Springer
Journal title:European journal of pediatrics, 2007-05, Vol.166 (5), p.443-446
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Showing 1 to 20 of 29 results

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Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities

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White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging

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Cryopreservation of ovarian tissue may be considered in young girls with galactosemia

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Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with cl...

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Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

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Abnormalities of retinal metabolism in diabetes and experimental galactosemia VII. Effect of long-term administration of antioxidants on the development of retinopathy

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Therapies for galactosemia: a patent landscape

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Living With Classical Galactosemia: Health-Related Quality of Life Consequences

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From Mind to Mouth: Event Related Potentials of Sentence Production in Classic Galactosemia

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Skeletal health in adult patients with classic galactosemia

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The male reproductive system in classic galactosemia: cryptorchidism and low semen volume

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Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion

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Monitoring of Biochemical Status in Children with Duarte Galactosemia: Utility of Galactose, Galactitol, Galactonate, and Galactose 1-Phosphate

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Correlates of language impairment in children with galactosaemia

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Remarkable differences: the course of life of young adults with galactosaemia and PKU

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Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions

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Duarte Galactosemia: How Sweet Is It?

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Mediators of a long-term movement abnormality in a Drosophila melanogaster model of classic galactosemia

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Clinical features of galactokinase deficiency: A review of the literature

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Growth in treated classical galactosemia patients

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