المؤلفون: Henna Tiwary, Leah E. Hecht, William J. Brucker, Gerard T. Berry, Nancy M. Rodig

المصدر: JIMD Reports, Vol 63, Iss 2, Pp 131-136 (2022)

مصطلحات موضوعية: CDG—chronic kidney disease, TLR—congenital disorder of glycosylation, PMM2—end stage renal disease, CKD—phosphomannosemutase‐2, ESRD—toll‐like receptor, UPC—urine protein‐to‐creatinine ratio, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/1974f0cef71a4833b40fbcebe670ebce

المؤلفون: Henna Tiwary, Leah E. Hecht, William J. Brucker, Gerard T. Berry, Nancy M. Rodig

المصدر: JIMD Reports. 63:131-136

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine, Biochemistry, Genetics and Molecular Biology (miscellaneous)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ed494bb77f90074ca84074e978f71292
https://doi.org/10.1002/jmd2.12269

المؤلفون: Melinda Palma, Kathryn McVicar, Michele Spencer-Manzon, Henna Tiwary, Jie Chen, Stephen Master, Miao He, Michael Bennett, Phillip Pearl, Gerard Berry

المصدر: Molecular Genetics and Metabolism. 135:289-290

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7c27acae3d7f40ba8ab36c8107b03192
https://doi.org/10.1016/j.ymgme.2022.01.070

المؤلفون: Tiwary, Henna, Hecht, Leah E., Brucker, William J., Berry, Gerard T., Rodig, Nancy M.

المصدر: Journal of Inherited Metabolic Disease Reports; Mar2022, Vol. 63 Issue 2, p131-136, 6p

المؤلفون: Levy, Harvey L.

المصدر: International Journal of Neonatal Screening (IJNS); Dec2021, Vol. 7 Issue 4, p67-67, 1p