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Sara Bertok

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

SCHOLARLY PAPERS

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Scholarly Papers (1)

1.

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
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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