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Urh Groselj

University of Ljubljana - Department of Endocrinology, Diabetes and Metabolic Diseases

Slovenia

SCHOLARLY PAPERS

2

DOWNLOADS

109

TOTAL CITATIONS

0

Scholarly Papers (2)

1.

Universal Screening for Familial Hypercholesterolemia in Two Populations

Number of pages: 24 Posted: 16 Mar 2022
affiliation not provided to SSRN, affiliation not provided to SSRN, University of Ljubljana - Department of Endocrinology, Diabetes and Metabolic Diseases, University of Ljubljana - University Medical Centre Ljubljana, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Auf der Bult Centre for Children and Adolescents, University of Ljubljana - Department of Endocrinology, Diabetes and Metabolic Diseases and University of Ljubljana - Department of Endocrinology, Diabetes and Metabolic Diseases
Downloads 71 (867,774)

Abstract:

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Familial hypercholesterolemia, Next-generation sequencing, Universal screening, Genetic testing, Cholesterol, children

2.

Clinical and Genetic Characteristics of a Patient with Phosphoribosyl Pyrophosphate Synthetase 1 Deficiency and a Systematic Literature Review

Number of pages: 14 Posted: 18 Apr 2023
University of Ljubljana - Department of Endocrinology, Diabetes and Metabolic Diseases, University of Ljubljana - Faculty of Medicine, University of Ljubljana - Department of Endocrinology, Diabetes and Metabolic Diseases, University of Ljubljana - Department of Endocrinology, Diabetes and Metabolic Diseases, University of Ljubljana - Department of Endocrinology, Diabetes and Metabolic Diseases, University of Ljubljana - University Medical Centre Ljubljana, University of Ljubljana - University Children’s Hospital, University of Ljubljana - University Medical Centre Ljubljana, University of Ljubljana - University Children’s Hospital, University of Ljubljana - University Children’s Hospital, University of Ljubljana - University Children’s Hospital, University of Ljubljana - Department of Endocrinology, Diabetes and Metabolic Diseases, University of Ljubljana - Department of Endocrinology, Diabetes and Metabolic Diseases, University of Ljubljana - University Medical Centre Ljubljana, University of Ljubljana - Department of Endocrinology, Diabetes and Metabolic Diseases, Hospital Universitario La Paz and University of Ljubljana - Department of Endocrinology, Diabetes and Metabolic Diseases
Downloads 38 (1,209,354)

Abstract:

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phosphoribosylpyrophosphate synthetase 1, PRPS1, PRS-I super-activity, PRS-I deficiency, Arts syndrome, X-linked Charcot-Marie-Tooth neuropathy type 5