المؤلفون: Nathan W. P. Cantley, Robert Barski, Helena Kemp, Sarah L. Hogg, Hoi Yee Teresa Wu, Ann Bowron, Catherine Collingwood, Jennifer Cundick, Claire Hart, Lynette Shakespeare, Mary Anne Preece, Helen Aitkenhead, Sarah Smith, Rachel S. Carling, Stuart J. Moat

المصدر: International Journal of Neonatal Screening, Vol 10, Iss 1, p 2 (2023)

مصطلحات موضوعية: classical galactosaemia, newborn screening, phenylketonuria, phenylalanine, tyrosine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/10/1/2; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/79260bb016c04c578835f77e03d5ce0a

المؤلفون: Hwei Wuen Chan, Filip Van den Broeck, Axelle Cools, Sophie Walraedt, Inge Joniau, Hannah Verdin, Irina Balikova, Stefaan Van Nuffel, Patricia Delbeke, Elfride De Baere, Bart P. Leroy, Fanny Nerinckx

المصدر: Frontiers in Medicine, Vol 10 (2023)

مصطلحات موضوعية: paediatric cataract, congenital cataract, nystagmus, galactosaemia, torches, 27G vitrectomy, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2023.1197984/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/9c61f536d17c4f1987202da0fdf5e504

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Eva Stryková

المصدر: Listy klinicke logopedie, Vol 4, Iss 2, Pp 7-12 (2020)

مصطلحات موضوعية: hereditary metabolic disorder (hmd), galactosaemia, neonatal screening, hearing, symptoms, aetiology, clinical speech therapist, Medicine, Oral communication. Speech, P95-95.6

وصف الملف: electronic resource

Relation: https://casopis.aklcr.cz/en/artkey/lkl-202002-0003_hearing-and-metabolic-diseases-in-the-image-of-galactosaemia-case-report.php; https://doaj.org/toc/2570-6179

URL الوصول: https://doaj.org/article/5569375009c2451a88d8c27145e1ae0f

المؤلفون: Isidro Vitoria, Fuensanta Melendreras, Antonio Vázquez-Palazón, Dolores Rausell, Patricia Correcher, Domingo González-Lamuño, Mónica García-Peris

المصدر: Nutrients, Vol 15, Iss 3, p 594 (2023)

مصطلحات موضوعية: inborn errors of metabolism, galactosaemia, galactose restriction, cheese, lactose, galactose, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6643/15/3/594; https://doaj.org/toc/2072-6643

URL الوصول: https://doaj.org/article/5c98a41374184a38a60ebcfa7c967aa1

المؤلفون: Dearbhla Milner, Fiona Boyle, Jenny McNulty, Ina Knerr

المصدر: Nutrients, Vol 15, Iss 2, p 407 (2023)

مصطلحات موضوعية: iodine, iodine deficiency disorders, galactosaemia, diet, inborn error of metabolism, rare disease, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6643/15/2/407; https://doaj.org/toc/2072-6643

URL الوصول: https://doaj.org/article/d974ec1259e04806929da599746383c3

المؤلفون: Heathfield, Laura Jane^{Aff1, Aff2}, Bhengu, Wenelisile^{Aff1, Aff2}, Louw, Susan, Martin, Lorna Jean, Ramesar, Raj

المصدر: International Journal of Legal Medicine. 134(5):1639-1645

المؤلفون: Stockmann, Henning^Aff13, Coss, Karen P.^Aff14, Rubio-Gozalbo, M. Estela^Aff15, Knerr, Ina^Aff16, Fitzgibbon, Maria^Aff17, Maratha, Ashwini^Aff18, Wilson, James^Aff19, Rudd, Pauline^Aff13, Treacy, Eileen P.^{Aff17, Aff18, Aff20}

المساهمون: Baumgartner, Matthias, Series editor^{Aff1, Aff8}, Patterson, Marc, Series editor^{Aff2, Aff9}, Rahman, Shamima, Series editor^{Aff3, Aff10}, Peters, Verena, Series editor^{Aff4, Aff12}, Morava, Eva, Editor-in-chief^{Aff5, Aff7}, Zschocke, Johannes, Series editor^{Aff6, Aff11}

المصدر: JIMD Reports, Volume 27. 27:47-53

المؤلفون: Hugh-Owen Colhoun, Estela M. Rubio Gozalbo, Annet M. Bosch, Ina Knerr, Charlotte Dawson, Jennifer Brady, Marie Galligan, Karolina Stepien, Roisin O’Flaherty, C. Catherine Moss, P. Peter Barker, Maria Fitzgibbon, Peter P. Doran, Eileen P. Treacy

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-13 (2018)

مصطلحات موضوعية: Classical galactosaemia, Infertility, Glycan modifier genes, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0906-3; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8c25fe5bb1824dfc8bba90b86d1ba3af