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Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review
Author / Creator:Forte, Giovanna ; Buonadonna, Antonia Lucia ; Pantaleo, Antonino ; Fasano, Candida ; Capodiferro, Donatella ; Grossi, Valentina ; Sanese, Paola ; Cariola, Filomena ; De Marco, Katia ; Lepore Signorile, Martina ; Manghisi, Andrea ; Guglielmi, Anna Filomena ; Simonetti, Simonetta ; Laforgia, Nicola ; Disciglio, Vittoria ; Simone, Cristiano
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-12, Vol.24 (24), p.17388
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A case report of classic galactosemia with a GALT gene variant and a literature review
Author / Creator:Wang, Yong-cai ; Lan, Lian-cheng ; Yang, Xia ; Xiao, Juan ; Liu, Hai-xin ; Shan, Qing-wen
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2024-05, Vol.24 (1), p.352-352, Article 352
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Toward Preventing Speech and Language Disorders of Known Genetic Origin: First Post-Intervention Results of Babble Boot Camp in Children With Classic Galactosemia
Author / Creator:Peter, Beate ; Davis, Jennifer ; Cotter, Sarah ; Belter, Alicia ; Williams, Emma ; Stumpf, Melissa ; Bruce, Laurel ; Eng, Linda ; Kim, Yookyung ; Finestack, Lizbeth ; Stoel-Gammon, Carol ; Williams, Delaney ; Scherer, Nancy ; VanDam, Mark ; Potter, Nancy
Publisher:United States: American Speech-Language-Hearing Association
Journal title:American journal of speech-language pathology, 2021-11, Vol.30 (6), p.2616-2634
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The natural history of classic galactosemia: lessons from the GalNet registry
Author / Creator:Rubio-Gozalbo, M. E. ; Haskovic, M. ; Bosch, A. M. ; Burnyte, B. ; Coelho, A. I. ; Cassiman, D. ; Couce, M. L. ; Dawson, C. ; Demirbas, D. ; Derks, T. ; Eyskens, F. ; Forga, M. T. ; Grunewald, S. ; Häberle, J. ; Hochuli, M. ; Hubert, A. ; Huidekoper, H. H. ; Janeiro, P. ; Kotzka, J. ; Knerr, I. ; Labrune, P. ; Landau, Y. E. ; Langendonk, J. G. ; Möslinger, D. ; Müller-Wieland, D. ; Murphy, E. ; Õunap, K. ; Ramadza, D. ; Rivera, I. A. ; Scholl-Buergi, S. ; Stepien, K. M. ; Thijs, A. ; Tran, C. ; Vara, R. ; Visser, G. ; Vos, R. ; de Vries, M. ; Waisbren, S. E. ; Welsink-Karssies, M. M. ; Wortmann, S. B. ; Gautschi, M. ; Treacy, E. P. ; Berry, G. T.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-04, Vol.14 (1), p.86-86, Article 86
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Biallelic GALM pathogenic variants cause a novel type of galactosemia
Author / Creator:Wada, Yoichi ; Kikuchi, Atsuo ; Arai-Ichinoi, Natsuko ; Sakamoto, Osamu ; Takezawa, Yusuke ; Iwasawa, Shinya ; Niihori, Tetsuya ; Nyuzuki, Hiromi ; Nakajima, Yoko ; Ogawa, Erika ; Ishige, Mika ; Hirai, Hiroki ; Sasai, Hideo ; Fujiki, Ryoji ; Shirota, Matsuyuki ; Funayama, Ryo ; Yamamoto, Masayuki ; Ito, Tetsuya ; Ohara, Osamu ; Nakayama, Keiko ; Aoki, Yoko ; Koshiba, Seizo ; Fukao, Toshiyuki ; Kure, Shigeo
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-06, Vol.21 (6), p.1286-1294
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Galactokinase deficiency: lessons from the GalNet registry
Author / Creator:Rubio-Gozalbo, M. Estela ; Derks, Britt ; Das, Anibh Martin ; Meyer, Uta ; Möslinger, Dorothea ; Couce, M. Luz ; Empain, Aurélie ; Ficicioglu, Can ; Juliá Palacios, Natalia ; De Los Santos De Pelegrin, Mariela M. ; Rivera, Isabel A. ; Scholl-Bürgi, Sabine ; Bosch, Annet M. ; Cassiman, David ; Demirbas, Didem ; Gautschi, Matthias ; Knerr, Ina ; Labrune, Philippe ; Skouma, Anastasia ; Verloo, Patrick ; Wortmann, Saskia B. ; Treacy, Eileen P. ; Timson, David J. ; Berry, Gerard T.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-01, Vol.23 (1), p.202-210
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Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary Study
Author / Creator:Scafuri, Bernardina ; Piscosquito, Stefania ; Giliberti, Giulia ; Facchiano, Angelo ; Miner, Jaden ; Balakrishnan, Bijina ; Lai, Kent ; Marabotti, Anna
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-01, Vol.26 (3), p.888
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Altered Mucus Glycosylation in Core 1 O-Glycan-Deficient Mice Affects Microbiota Composition and Intestinal Architecture
Author / Creator:Sommer, Felix ; Adam, Nina ; Johansson, Malin E. V. ; Xia, Lijun ; Hansson, Gunnar C. ; Bäckhed, Fredrik
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-01, Vol.9 (1), p.e85254
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The Importance of Neonatal Screening for Galactosemia
Author / Creator:Badiu Tișa, Ioana ; Achim, Anca Cristina ; Cozma-Petruț, Anamaria
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2022-12, Vol.15 (1), p.10
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Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis
Author / Creator:Maratha, Ashwini ; Stockmann, Henning ; Coss, Karen P ; Estela Rubio-Gozalbo, M ; Knerr, Ina ; Fitzgibbon, Maria ; McVeigh, Terri P ; Foley, Patricia ; Moss, Catherine ; Colhoun, Hugh-Owen ; van Erven, Britt ; Stephens, Kelly ; Doran, Peter ; Rudd, Pauline ; Treacy, Eileen
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-07, Vol.24 (7), p.976-984
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Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency
Author / Creator:Sánchez-Pintos, Paula ; Camba-Garea, Maria José ; López-Pardo, Beatriz Martin ; de Juan, Jose A. Cocho ; Bóveda, M. Dolores ; Barbosa-Gouveia, Sofia ; Vázquez-Mosquera, Maria E ; Barros-Angueira, Francisco ; Patiño, Raquel Fernández ; Couce, Maria L.
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2024-09, Vol.24 (1), p.620-6, Article 620
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Developmental outcomes of children with Duarte galactosemia: exploring the bases of an apparent contradiction in the literature
Author / Creator:Fridovich-Keil, Judith L. ; Carlock, Grace ; Coles, Claire D. ; Lynch, Mary Ellen ; Millians, Molly N. ; Potter, Nancy L. ; Powell, Kimberly ; Richards, Peter ; Singh, Rani ; Wittenauer, Angela
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-12, Vol.21 (12), p.2683-2685
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The adult galactosemic phenotype
Author / Creator:Waisbren, Susan E. ; Potter, Nancy L. ; Gordon, Catherine M. ; Green, Robert C. ; Greenstein, Patricia ; Gubbels, Cynthia S. ; Rubio-Gozalbo, Estela ; Schomer, Donald ; Welt, Corrine ; Anastasoaie, Vera ; D’Anna, Kali ; Gentile, Jennifer ; Guo, Chao-Yu ; Hecht, Leah ; Jackson, Roberta ; Jansma, Bernadette M. ; Li, Yijun ; Lip, Va ; Miller, David T. ; Murray, Michael ; Power, Leslie ; Quinn, Nicolle ; Rohr, Frances ; Shen, Yiping ; Skinder-Meredith, Amy ; Timmers, Inge ; Tunick, Rachel ; Wessel, Ann ; Wu, Bai-Lin ; Levy, Harvey ; Elsas, Louis ; Berry, Gerard T.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-03, Vol.35 (2), p.279-286
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Analysis of the Structure-Function-Dynamics Relationships of GALT Enzyme and of Its Pathogenic Mutant p.Q188R: A Molecular Dynamics Simulation Study in Different Experimental Conditions
Author / Creator:Verdino, Anna ; D’Urso, Gaetano ; Tammone, Carmen ; Scafuri, Bernardina ; Marabotti, Anna
Publisher:Switzerland: MDPI AG
Journal title:Molecules (Basel, Switzerland), 2021-09, Vol.26 (19), p.5941
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Harnessing the Power of Purple Sweet Potato Color and Myo-Inositol to Treat Classic Galactosemia
Author / Creator:Hagen-Lillevik, Synneva ; Johnson, Joshua ; Siddiqi, Anwer ; Persinger, Jes ; Hale, Gillian ; Lai, Kent
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-08, Vol.23 (15), p.8654
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Simulation of the Interactions of Arginine with Wild-Type GALT Enzyme and the Classic Galactosemia-Related Mutant p.Q188R by a Computational Approach
Author / Creator:Verdino, Anna ; D’Urso, Gaetano ; Tammone, Carmen ; Scafuri, Bernardina ; Catapano, Lucrezia ; Marabotti, Anna
Publisher:Switzerland: MDPI AG
Journal title:Molecules (Basel, Switzerland), 2021-10, Vol.26 (19), p.6061
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Prevalence and Phenotype of Childhood Apraxia of Speech in Youth With Galactosemia
Author / Creator:Shriberg, Lawrence D. ; Potter, Nancy L. ; Strand, Edythe A.
Publisher:United States: American Speech-Language-Hearing Association (ASHA)
Journal title:Journal of speech, language, and hearing research, 2011-04, Vol.54 (2), p.487-519
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Ovarian function in girls and women with GALT-deficiency galactosemia
Author / Creator:Fridovich-Keil, Judith L. ; Gubbels, Cynthia S. ; Spencer, Jessica B. ; Sanders, Rebecca D. ; Land, Jolande A. ; Rubio-Gozalbo, Estela
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2011-04, Vol.34 (2), p.357-366
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Clinical and experimental advances in congenital and paediatric cataracts
Author / Creator:Churchill, Amanda ; Graw, Jochen
Publisher:England: The Royal Society
Journal title:Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2011-04, Vol.366 (1568), p.1234-1249
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Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing
Author / Creator:Narravula, Alekhya ; Garber, Kathryn B. ; Askree, S. Hussain ; Hegde, Madhuri ; Hall, Patricia L.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2017-01, Vol.19 (1), p.77-82
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Showing 1 to 20 of 133 results

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Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review

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A case report of classic galactosemia with a GALT gene variant and a literature review

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Toward Preventing Speech and Language Disorders of Known Genetic Origin: First Post-Intervention Results of Babble Boot Camp in Children With Classic Galactosemia

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The natural history of classic galactosemia: lessons from the GalNet registry

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Biallelic GALM pathogenic variants cause a novel type of galactosemia

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Galactokinase deficiency: lessons from the GalNet registry

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Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary Study

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Altered Mucus Glycosylation in Core 1 O-Glycan-Deficient Mice Affects Microbiota Composition and Intestinal Architecture

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The Importance of Neonatal Screening for Galactosemia

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Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

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Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency

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Developmental outcomes of children with Duarte galactosemia: exploring the bases of an apparent contradiction in the literature

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The adult galactosemic phenotype

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Analysis of the Structure-Function-Dynamics Relationships of GALT Enzyme and of Its Pathogenic Mutant p.Q188R: A Molecular Dynamics Simulation Study in Different Experimental Conditions

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Harnessing the Power of Purple Sweet Potato Color and Myo-Inositol to Treat Classic Galactosemia

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Simulation of the Interactions of Arginine with Wild-Type GALT Enzyme and the Classic Galactosemia-Related Mutant p.Q188R by a Computational Approach

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Prevalence and Phenotype of Childhood Apraxia of Speech in Youth With Galactosemia

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Ovarian function in girls and women with GALT-deficiency galactosemia

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Clinical and experimental advances in congenital and paediatric cataracts

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Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing

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