The natural history of glycogen storage disease type Ib in England: A multisite survey

The natural history of glycogen storage disease type Ib in England: A multisite survey

Abstract Glycogen storage disease type Ib (GSDIb) is characterized by hepatomegaly and fasting hypoglycaemia as well as neutropaenia and recurrent infections. We conducted a retrospective observational study on a cohort of patients with GSDIb across England. A total of 35 patients, with a median age...

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Bibliographic Details
Main Authors: Rebecca Halligan, Fiona J. White, Bernd Schwahn, Karolina M. Stepien, Nazreen Kamarus Jaman, Mel McSweeney, Steve Kitchen, Joanna Gribben, Charlotte Dawson, Katherine Lewis, David Cregeen, Helen Mundy, Saikat Santra
Format: Article
Language:English
Published: Wiley 2021-05-01
Series:JIMD Reports
Subjects:
1,5‐anhydroglucitol‐6‐phosphate
genotype
glycogen storage disease type Ib
liver transplantation
neutropaenia
neutrophil dysfunction
Online Access:https://doi.org/10.1002/jmd2.12200

Internet

https://doi.org/10.1002/jmd2.12200

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