Orthotopic Liver Transplantation in a Patient With GALTp.Ser135Leu/Null

Authors: Kara Simpson, Erin L. MacLeod, Julia Clayton, Nada A. Yazigi, M. Estela Rubio‐Gozalbo, Judith L. Fridovich‐Keil, Gerard T. Berry, Nicholas Ah Mew

Source: JIMD Rep
JIMD Reports, Vol 66, Iss 3, Pp n/a-n/a (2025)

Subject Terms: galactose-1-phosphate uridylyltransferase deficiency, liver transplant, galactose‐1‐phosphate uridylyltransferase deficiency, newborn screening, galactose-1-phosphate, Genetics, Case Report, QH426-470, RC648-665, Diseases of the endocrine glands. Clinical endocrinology, galactose‐1‐phosphate, galactosemia

Access URL: https://pubmed.ncbi.nlm.nih.gov/40352451
https://doaj.org/article/543367f5ce4b4833894e4073c0c4b45d