Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control

Fabian Peeks,Thomas A.H. Steunenberg,Foekje de Boer,M. Estela Rubio Gozalbo,Monique Williams,Rob Burghard,Fabienne Rajas,Maaike H. Oosterveer,David A. Weinstein,Terry G. J. Derks

Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control

2017

Fabian Peeks
Thomas A.H. Steunenberg
Foekje de Boer
M. Estela Rubio Gozalbo
Monique Williams
Rob Burghard
Fabienne Rajas
Maaike H. Oosterveer
David A. Weinstein
Terry G. J. Derks

Objective To study heterogeneity between patients with glycogen storage disease type Ia (GSD Ia), a rare inherited disorder of carbohydrate metabolism caused by the deficiency of glucose-6-phosphatase (G6Pase).

Keywords:

Biology
Endocrinology
G6PC
Diabetes mellitus
Study heterogeneity
Internal medicine
Metabolic control analysis
Glycogen storage disease type Ia
Carbohydrate metabolism
CUSUM
Glycogen storage disease type I
Uric acid
Triglyceride
Nephropathy
Genotype

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