المؤلفون: 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

المساهمون: Paediatric Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: GROW - R4 - Reproductive and Perinatal Medicine

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

مصطلحات موضوعية: Galactosemias, speech delay, POI, Homozygote, Infant, Newborn, Galactose, neurocognitive outcomes, acute symptoms, Genetics, Humans, UTP-Hexose-1-Phosphate Uridylyltransferase, Female, S135L variant, Genetics (clinical), Alleles, long-term outcomes, galactosemia

URL الوصول: 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