Works about GALACTOSEMIA


Results: 227
    1
    2
    3
    4
    5
    6
    7
    8
    9
    10
    11
    12
    13

    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
    14

    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
    15
    16

    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
    17
    18
    19
    20
    21
    22
    23
    24
    25

    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
    26
    27
    28
    29
    30
    31
    32
    33
    34
    35
    36
    37
    38

    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
    39
    40
    41

    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
    42
    43

    Galactosemia: Towards Pharmacological Chaperones.

    Published in:
    Journal of Personalized Medicine, 2021, v. 11, n. 2, p. 106, doi. 10.3390/jpm11020106
    By:
    • Banford, Samantha;
    • McCorvie, Thomas J.;
    • Pey, Angel L.;
    • Timson, David J.;
    • Braun, Ralf
    Publication type:
    Article
    44
    45
    46

    Literature reviews.

    Published in:
    Clinical Pediatrics, 1995, v. 34, n. 10, p. 567
    By:
    • Roth, Karl S.;
    • Lampe, John B.
    Publication type:
    Article
    47
    48
    49
    50