Subject | Endocrinology, Diabetes and Metabolism |
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Specific subject area | Inborn errors of metabolism; Glycogen storage diseases |
Type of data | Table Image |
How data were acquired | NMR, Ultrasound, Laboratory, Dietary plans. |
Data format | Raw |
Parameters for data collection | Blood samplings were periodically taken in fasting state. Cardiac NMR was made at the 11 years old and repeated at the age of 15 with a high definition MRI machine. Abdominal ultrasound was developed by a image specialist. Dieticians calculated and constituted the diet therapy, indicated the dietary plan to the patient and checked her adherence. |
Description of data collection | All the data were provided at the UMC - University Children's Hospital Ljubljana, Slovenia. The blood sampling, ultrasounds and dietary counselling were performed at the UMC - University Children's Hospital Ljubljana, Slovenia at the regular visits of patient. The NMR was performed in the UMC - Clinical Institute of Radiology Ljubljana, Slovenia. All the data (biochemical, imaging) have been recorded and obtained from the electronic medical record. |
Data source location | UMC - University Children's Hospital Ljubljana. Ljubljana Slovenia 3G3C+MM Ljubljana, Slovenia |
Data accessibility | Repository name: Mendeley Data Direct URL to data: DOI: 10.17632/6xxrvndt2m.2 https://data.mendeley.com/datasets/6xxrvndt2m/2 |
Related research article [1] | T. Marusic, M. Zerjav Tansek, A. Sirca Campa, A. Mezek, P. Berden, T. Battelino; U. Groselj. Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa. Molecular Genetics and Metabolism Reports. (2020)24:100628. https://doi.org/10.1016/j.ymgmr.2020.100628 |