A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT

Autor: Quinton S. Katler, Karolina M. Stepien, Nathan Paull, Sneh Patel, Michael Adams, Mehmet Cihan Balci, Gerard T. Berry, Annet M. Bosch, Angela DeLaO, Didem Demirbas, Julianna Edman, Can Ficicioglu, Melanie Goff, Stephanie Hacker, Ina Knerr, Kristen Lancaster, Hong Li, Bryce A. Mendelsohn, Brandi Nichols, Wladimir Bocca Vieira de Rezende Pinto, Júlio César Rocha, M. Estela Rubio‐Gozalbo, Michael Saad‐Naguib, Sabine Scholl‐Buergi, Sarah Searcy, Paulo Victor Sgobbi de Souza, Angela Wittenauer, Judith L. Fridovich‐Keil

Publikováno v: Journal of inherited metabolic disease, 45(6), 1106-1117. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(6), 1106-1117. Wiley

Patients with galactosemia who carry the S135L (c.404C>T) variant of GALT, documented to encode low-level residual GALT activity, have been under-represented in most prior studies of outcomes in Type 1 galactosemia. What is known about the acute and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dccf5bae9b52d36f5f72b14fedfa6a0
https://pure.amc.nl/en/publications/a-multinational-study-of-acute-and-longterm-outcomes-of-type-1-galactosemia-patients-who-carry-the-s135l-c404c--t-variant-of-galt(b1723fa3-849c-43e8-b224-fbc91dbbbe38).html