Works matching Galactosemia

Results: 706
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    Evaluation of our newborns with galactosemia.

    Published in:
    Journal of Turgut Ozal Medical Center, 2016, v. 23, n. 4, p. 394, doi. 10.5455/jtomc.2016.06.077
    By:
    • Korkmaz, Levent;
    • Ozturk, Mehmet Adnan;
    • Kardas, Fatih;
    • Daar, Ghaniya;
    • Bastug, Osman;
    • Akin, Mustafa Ali;
    • Korkut, Sabriye;
    • Ozdemir, Ahmet;
    • Ascioglu, Mustafa Erhan;
    • Gunes, Tamer;
    • Kendirci, Mustafa;
    • Kurtoglu, Selim
    Publication type:
    Article
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    The hypergonadotropic hypogonadism conundrum of classic galactosemia.

    Published in:
    Human Reproduction Update, 2023, v. 29, n. 2, p. 246, doi. 10.1093/humupd/dmac041
    By:
    • Derks, Britt;
    • Rivera-Cruz, Greysha;
    • Hagen-Lillevik, Synneva;
    • Vos, E Naomi;
    • Demirbas, Didem;
    • Lai, Kent;
    • Treacy, Eileen P;
    • Levy, Harvey L;
    • Wilkins-Haug, Louise E;
    • Rubio-Gozalbo, M Estela;
    • Berry, Gerard T
    Publication type:
    Article
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    Results of the ACTION‐Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia.

    Published in:
    Journal of Clinical Pharmacology, 2025, v. 65, n. 5, p. 575, doi. 10.1002/jcph.6170
    By:
    • Bailey, Evan;
    • Phan, Han;
    • Ahmad, Ayesha;
    • Thomas, Janet;
    • Ames, Elizabeth G.;
    • Pritchard, Amanda B.;
    • Quinonez, Shane C.;
    • Wang, Stella;
    • Dayley, Caleb;
    • Salt, Andrew;
    • Pick, Christina;
    • Durrant, Abe;
    • Johnson, Samuel;
    • Nicodemus‐Johnson, Jessie;
    • Dickson, Samuel P.;
    • Perfetti, Riccardo;
    • Hendrix, Suzanne B.;
    • Shendelman, Shoshana
    Publication type:
    Article
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    Pseudohyperglycemia due to glucometer interference in galactosemia.

    Published in:
    Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 5, p. e107, doi. 10.1515/cclm-2023-1304
    By:
    • Decru, Bram;
    • Blanckaert, Hilde;
    • Naulaers, Gunnar;
    • Vanhole, Christine;
    • Rymen, Daisy;
    • Witters, Peter;
    • Van Wambeke, Inge;
    • Gillard, Pieter;
    • Vermeersch, Pieter
    Publication type:
    Article
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    Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17388, doi. 10.3390/ijms242417388
    By:
    • 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
    Publication type:
    Article
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    Fertility preservation in female classic galactosemia patients.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-107
    By:
    • van Erven, Britt;
    • Gubbels, Cynthia S.;
    • van Golde, Ron J.;
    • Dunselman, Gerard A.;
    • Derhaag, Josien G.;
    • de Wert, Guido;
    • Geraedts, Joep P.;
    • Bosch, Annet M.;
    • Treacy, Eileen P.;
    • Welt, Corrine K.;
    • Berry, Gerard T.;
    • Estela Rubio-Gozalbo, M.
    Publication type:
    Article
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    Brain function in classic galactosemia, a galactosemia network (GalNet) members review.

    Published in:
    Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1355962
    By:
    • Panis, Bianca;
    • Vos, E. Naomi;
    • Barić, Ivo;
    • Bosch, Annet M.;
    • Brouwers, Martijn C. G. J.;
    • Burlina, Alberto;
    • Cassiman, David;
    • Coman, David J.;
    • Couce, María L.;
    • Das, Anibh M.;
    • Demirbas, Didem;
    • Empain, Aurélie;
    • Gautschi, Matthias;
    • Grafakou, Olga;
    • Grunewald, Stephanie;
    • Kingma, Sandra D. K.;
    • Knerr, Ina;
    • Leão-Teles, Elisa;
    • Möslinger, Dorothea;
    • Murphy, Elaine
    Publication type:
    Article
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    Galactosemia and phantom absence seizures.

    Published in:
    Journal of Pediatric Neurosciences, 2014, v. 9, n. 3, p. 253, doi. 10.4103/1817-1745.147581
    By:
    • Aydin-Özemir, Zeynep;
    • Tektürk, Pinar;
    • Uyguner, Zehra Oya;
    • Baykan, Betül
    Publication type:
    Article
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