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RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a review of the current literature
- Phadke, R. (author)
-
- Oldfors Hedberg, Carola, 1969 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine
- Scalco, R. S. (author)
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- Lowe, D. M. (author)
- Ashworth, M. (author)
- Novelli, M. (author)
- Vara, R. (author)
- Merwick, A. (author)
- Amer, H. (author)
- Sofat, R. (author)
- Sugarman, M. (author)
- Jovanovic, A. (author)
- Roberts, M. (author)
- Nakou, V. (author)
- King, A. (author)
- Bodi, I. (author)
- Jungbluth, H. (author)
- Murphy, E. (author)
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- (creator_code:org_t)
- 2020-04-16
- 2020
- English.
- In: Journal of Inherited Metabolic Disease. - : Wiley. - 0141-8955 .- 1573-2665. ; 43:5, s. 1002-1013
- Journal article (peer-reviewed)
Abstract
Subject headings
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- In this article, we report four new patients, from three kindreds, with pathogenic variants in RBCK1 and a multisystem disorder characterised by widespread polyglucosan storage. We describe the clinical presentation of progressive skeletal and cardiac myopathy, combined immunodeficiencies and auto-inflammation, illustrate in detail the histopathological findings in multiple tissue types, and report muscle MRI findings. © 2020 SSIEM
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Keyword
- auto-inflammation
- cardio
- glycogen
- myopathy
- polyglucosan
- RBCK1
Publication and Content Type
- ref (subject category)
- art (subject category)
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- Journal of Inherited Metabolic Disease (Search for host publication in LIBRIS)
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- Phadke, R.
- Oldfors Hedberg, ...
- Scalco, R. S.
- Lowe, D. M.
- Ashworth, M.
- Novelli, M.
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- Vara, R.
- Merwick, A.
- Amer, H.
- Sofat, R.
- Sugarman, M.
- Jovanovic, A.
- Roberts, M.
- Nakou, V.
- King, A.
- Bodi, I.
- Jungbluth, H.
- Oldfors, Anders, ...
- Murphy, E.
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- University of Gothenburg
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