Works matching DE "GALACTOSEMIA"

Results: 227
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    International Survey on Phenylketonuria Newborn Screening.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 18, doi. 10.3390/ijns11010018
    By:
    • Trampuž, Domen;
    • Schielen, Peter C. J. I.;
    • Zetterström, Rolf H.;
    • Scarpa, Maurizio;
    • Feillet, François;
    • Kožich, Viktor;
    • Tangeraas, Trine;
    • Drole Torkar, Ana;
    • Mlinarič, Matej;
    • Perko, Daša;
    • Remec, Žiga Iztok;
    • Lampret, Barbka Repič;
    • Battelino, Tadej;
    • van Spronsen, Francjan J.;
    • Bonham, James R.;
    • Grošelj, Urh
    Publication type:
    Article
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    Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 2, doi. 10.3390/ijns10010002
    By:
    • Cantley, Nathan W. P.;
    • Barski, Robert;
    • Kemp, Helena;
    • Hogg, Sarah L.;
    • Wu, Hoi Yee Teresa;
    • Bowron, Ann;
    • Collingwood, Catherine;
    • Cundick, Jennifer;
    • Hart, Claire;
    • Shakespeare, Lynette;
    • Preece, Mary Anne;
    • Aitkenhead, Helen;
    • Smith, Sarah;
    • Carling, Rachel S.;
    • Moat, Stuart J.
    Publication type:
    Article
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    Secondary Reporting of G6PD Deficiency on Newborn Screening.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 18, doi. 10.3390/ijns9020018
    By:
    • Hoang, Stephanie C.;
    • Blumenschein, Pamela;
    • Lilley, Margaret;
    • Olshaski, Larissa;
    • Bruce, Aisha;
    • Wright, Nicola A. M.;
    • Ridsdale, Ross;
    • Christian, Susan
    Publication type:
    Article
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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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    Peripheral nerve regeneration in galactosaemic rats.

    Published in:
    Neuropathology & Applied Neurobiology, 2002, v. 28, n. 5, p. 381, doi. 10.1046/j.1365-2990.2002.00404.x
    By:
    • King, R. H. M.;
    • Muddle, J. R.;
    • Nourallah, M.;
    • Wong, J.;
    • Workman, J. M.;
    • Thomas, P. K.
    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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    Soy infant formula: is it that bad?

    Published in:
    Acta Paediatrica, 2011, v. 100, n. 2, p. 162, doi. 10.1111/j.1651-2227.2010.02021.x
    By:
    • Vandenplas, Yvan;
    • De Greef, Elisabeth;
    • Devreker, Thierry;
    • Hauser, Bruno
    Publication type:
    Article
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    Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.

    Published in:
    2018
    By:
    • Haskovic, Minela;
    • Derks, Britt;
    • van der Ploeg, Liesbeth;
    • Trommelen, Jorn;
    • Nyakayiru, Jean;
    • van Loon, Luc J. C.;
    • Mackinnon, Sabrina;
    • Yue, Wyatt W.;
    • Peake, Roy W. A.;
    • Zha, Li;
    • Demirbas, Didem;
    • Qi, Wanshu;
    • Huang, Xiaoping;
    • Berry, Gerard T.;
    • Achten, Jelle;
    • Bierau, Jörgen;
    • Rubio-Gozalbo, M. Estela;
    • Coelho, Ana I.
    Publication type:
    journal 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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    Peripheral Nerve Regeneration in Galactosaemic Rats.

    Published in:
    Journal of the Peripheral Nervous System, 2003, v. 8, n. 2, p. 128, doi. 10.1046/j.1529-8027.2003.03016_17.x
    By:
    • King, RHM;
    • Muddle, JR;
    • Nourallah, M;
    • Wong, J;
    • Workman, JM;
    • Thomas, PK
    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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