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RBCK1-related disea...
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
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Phadke, R. (author)
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- Oldfors Hedberg, Carola, 1969 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine
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Scalco, R. S. (author)
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Lowe, D. M. (author)
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Ashworth, M. (author)
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Novelli, M. (author)
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Vara, R. (author)
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Merwick, A. (author)
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Amer, H. (author)
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Sofat, R. (author)
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Sugarman, M. (author)
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Jovanovic, A. (author)
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Roberts, M. (author)
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Nakou, V. (author)
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King, A. (author)
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Bodi, I. (author)
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Jungbluth, H. (author)
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- Oldfors, Anders, 1951 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine
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Murphy, E. (author)
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(creator_code:org_t)
- 2020-04-16
- 2020
- English.
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In: Journal of Inherited Metabolic Disease. - : Wiley. - 0141-8955 .- 1573-2665. ; 43:5, s. 1002-1013
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Abstract
Subject headings
Close
- 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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To the university's database
- By the author/editor
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Phadke, R.
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Oldfors Hedberg, ...
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Scalco, R. S.
-
Lowe, D. M.
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Ashworth, M.
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Novelli, M.
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show more...
-
Vara, R.
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Merwick, A.
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Amer, H.
-
Sofat, R.
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Sugarman, M.
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Jovanovic, A.
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Roberts, M.
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Nakou, V.
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King, A.
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Bodi, I.
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Jungbluth, H.
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Oldfors, Anders, ...
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Murphy, E.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
- Articles in the publication
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Journal of Inher ...
- By the university
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University of Gothenburg