المؤلفون: Britt Derks, Didem Demirbas, Rodrigo R. Arantes, Samantha Banford, Alberto B. Burlina, Analía Cabrera, Ana Chiesa, M. Luz Couce, Carlo Dionisi-Vici, Matthias Gautschi, Stephanie Grünewald, Eva Morava, Dorothea Möslinger, Sabine Scholl-Bürgi, Anastasia Skouma, Karolina M. Stepien, David J. Timson, Gerard T. Berry, M. Estela Rubio-Gozalbo

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Galactose epimerase deficiency, Galactosemia type III, Galactosemias Network, Galactose-restricted diet, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/7b30d0500cf94f298bf161b0d11d2fb6

المؤلفون: Ioana Badiu Tișa, Anca Cristina Achim, Anamaria Cozma-Petruț

المصدر: Nutrients; Volume 15; Issue 1; Pages: 10

مصطلحات موضوعية: galactosemia, newborn screening, galactose-1-phosphate uridyltransferase, galactokinase, UDP galactose-4-epimerase, galactose mutarotase, incidence, therapeutical approaches, galactose-restricted diet

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Pediatric Nutrition; https://dx.doi.org/10.3390/nu15010010

الاتاحة: https://doi.org/10.3390/nu15010010

المؤلفون: Dron, Jon

المصدر: Dron , J 2007 , Control and constraint in E-Learning: choosing when to choose . Orphanet Journal of Rare Diseases , vol. 17 , 1 edn , Information Science Publishing , USA .

مصطلحات موضوعية: Galactose epimerase deficiency, Galactose-restricted diet, Galactosemia type III, Galactosemias Network, Inherited metabolic diseases, Research

Relation: urn:ISBN:1599043904

الاتاحة: https://research.brighton.ac.uk/en/publications/f60de7cc-8506-48fa-aa7c-fd9dd080876c

المؤلفون: Derks, Britt, Demirbas, Didem, Arantes, Rodrigo R., Banford, Samantha, Burlina, Alberto B., Cabrera, Analía, Chiesa, Ana Elena, Couce, M. Luz, Dionisi Vici, Carlo, Gautschi, Matthias, Grünewald, Stephanie, Morava, Eva, Möslinger, Dorothea, Scholl Bürgi, Sabine, Skouma, Anastasia, Stepien, Karolina M., Timson, David J., Berry, Gerard T., Rubio Gozalbo, M. Estela

مصطلحات موضوعية: GALACTOSE EPIMERASE DEFICIENCY, GALACTOSE-RESTRICTED DIET, GALACTOSEMIA TYPE III, GALACTOSEMIAS NETWORK, https://purl.org/becyt/ford/3.2, https://purl.org/becyt/ford/3

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11336/213633; Derks, Britt; Demirbas, Didem; Arantes, Rodrigo R.; Banford, Samantha; Burlina, Alberto B.; et al.; Galactose epimerase deficiency: lessons from the GalNet registry; BioMed Central; Orphanet Journal Of Rare Diseases; 17; 1; 12-2022; 1-12; CONICET Digital; CONICET

الاتاحة: http://hdl.handle.net/11336/213633