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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.
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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  Data: VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review.
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  Data: <searchLink fieldCode="AU" term="%22Kafol+J%22">Kafol J</searchLink>; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Gnidovec+Strazisar+B%22">Gnidovec Strazisar B</searchLink>; Faculty of Medicine, University of Maribor, Maribor, Slovenia.; Department of Pediatrics, General Hospital Celje, Celje, Slovenia.<br /><searchLink fieldCode="AU" term="%22Drole+Torkar+A%22">Drole Torkar A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Homan+M%22">Homan M</searchLink>; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Gastroenterology, Hepatology and Nutrition, University Children's Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Bertok+S%22">Bertok S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mlinaric+M%22">Mlinaric M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Sikonja+J%22">Sikonja J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kovač+J%22">Kovač J</searchLink>; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Perkovic+Benedik+M%22">Perkovic Benedik M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kersnik+Levart+T%22">Kersnik Levart T</searchLink>; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Nephrology, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Zerjav+Tansek+M%22">Zerjav Tansek M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Praprotnik+M%22">Praprotnik M</searchLink>; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department for Pulmonary Diseases, University Children's Hospital Ljubljana, University Medical Centre Ljubljana, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Battelino+T%22">Battelino T</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Debeljak+M%22">Debeljak M</searchLink>; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Groselj+U%22">Groselj U</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2024 Dec 30; Vol. 19 (1), pp. 496. <i>Date of Electronic Publication: </i>2024 Dec 30.
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