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

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). STUDY DESIGN: Descriptive retrospective study of longitudinal clinical and biochemical d...

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Dettagli Bibliografici
Pubblicato in:J Inherit Metab Dis
Autori principali: Peeks, Fabian, Steunenberg, Thomas A. H., de Boer, Foekje, Rubio-Gozalbo, M. Estela, Williams, Monique, Burghard, Rob, Rajas, Fabienne, Oosterveer, Maaike H., Weinstein, David A., Derks, Terry G. J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Netherlands 2017
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5579135/
https://ncbi.nlm.nih.gov/pubmed/28397058
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-017-0039-1
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