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pro vyhledávání: '"Waltraut Merz"'
Autor:
Sarah Catharina Grünert, Stefanie Rosenbaum‐Fabian, Anke Schumann, Anne‐Christine Selbitz, Waltraut Merz, Andrea Gieselmann, Ute Spiekerkoetter
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 303-308 (2022)
Abstract Glycogen storage disease type Ib (GSD Ib) is caused by biallelic variants in SLC37A4. GSD Ib is characterized by hepatomegaly, recurrent hypoglycemia, neutropenia, and neutrophil dysfunction. Only seven pregnancies in four women with GSD Ib
Externí odkaz:
https://doaj.org/article/f39b0e2f7b604f3cb0459b45f113f3c8
