VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review.
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| Title: | VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review. |
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| Authors: | Kafol J; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Gnidovec Strazisar B; Faculty of Medicine, University of Maribor, Maribor, Slovenia.; Department of Pediatrics, General Hospital Celje, Celje, Slovenia., Drole Torkar A; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000, Ljubljana, Slovenia., Homan M; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Gastroenterology, Hepatology and Nutrition, University Children's Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia., Bertok S; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000, Ljubljana, Slovenia., Mlinaric M; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000, Ljubljana, Slovenia., Sikonja J; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000, Ljubljana, Slovenia., Kovač J; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Perkovic Benedik M; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Child, Adolescent and Developmental Neurology, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Kersnik Levart T; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Nephrology, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Zerjav Tansek M; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000, Ljubljana, Slovenia., Praprotnik M; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department for Pulmonary Diseases, University Children's Hospital Ljubljana, University Medical Centre Ljubljana, Ljubljana, Slovenia., Battelino T; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000, Ljubljana, Slovenia., Debeljak M; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Groselj U; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. urh.groselj@gmail.com.; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000, Ljubljana, Slovenia. urh.groselj@gmail.com. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Dec 30; Vol. 19 (1), pp. 496. Date of Electronic Publication: 2024 Dec 30. |
| Publication Type: | Systematic Review; Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1750-1172 |
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| DOI: | 10.1186/s13023-024-03486-2 |
