RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, autoinflammation, recurrent infections, skeletal, and cardiac myopathy

被引：0

作者：

Phadke, R. ^{[1
]}

Hedberg-Oldfors, C. ^{[2
]}

Scalco, R. ^{[1
]}

Lowe, D. ^{[3
]}

Ashworth, M. ^{[4
]}

Novelli, M. ^{[5
]}

Vara, R. ^{[6
]}

Merwick, A. ^{[7
]}

Amer, H. ^{[8
]}

Sofat, R. ^{[8
]}

Sugarman, M. ^{[9
]}

Jovanovic, A. ^{[9
]}

Roberts, M. ^{[9
]}

Nakou, V. ^{[6
]}

King, A. ^{[10
]}

Bodi, I. ^{[10
]}

Jungbluth, H. ^{[10
]}

Oldfors, A. ^{[2
]}

Murphy, E. ^{[8
]}

机构：

[1] UCL Queen Sq Inst, London, England

[2] Univ Gothenburg, Gothenburg, Sweden

[3] Royal Free Hosp, London, England

[4] Great Ormond St Hosp Sick Children, London, England

[5] UCL, London, England

[6] Evelina Childrens Hosp, London, England

[7] Beaumont Hosp, Dublin, Ireland

[8] UCLH NHS Fdn Trust, London, England

[9] Salford Royal Hosp, Salford, Lancs, England

[10] Kings Coll Hosp London, London, England

来源：

NEUROMUSCULAR DISORDERS | 2020年 / 30卷

关键词：

D O I：

10.1016/j.nmd.2020.08.315

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

P.318

引用

页码：S139 / S140

页数：2

共 5 条

[1] 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, Rahul
Hedberg-Oldfors, Carola
Scalco, Renata S.
Lowe, David M.
Ashworth, Michael
Novelli, Marco
Vara, Roshni
Merwick, Aine
Amer, Halima
Sofat, Reecha
Sugarman, Max
Jovanovic, Ana
Roberts, Mark
Nakou, Vasiliki
King, Andrew
Bodi, Istvan
Jungbluth, Heinz
Oldfors, Anders
Murphy, Elaine
JOURNAL OF INHERITED METABOLIC DISEASE, 2020, 43 (05) : 1002 - 1013
[2] A rare monogenic polyglucosan storage disorder causing multisystem autoinflammation, recurrent infections, cardiac and skeletal myopathies in female siblings
Phadke, R.
Scalco, R. S.
Oldfors, A.
Murphy, E.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2017, 43 : 28 - 28
[3] RBCK1 mid-domain mutations with a phenotype spanning the entire spectrum of the condition: A rare polyglucosan storage disorder causing multisystem autoinflammation, immunodeficiency, cardiac and skeletal myopathy
Phadke, R.
Scalco, R. S.
Oldfors, A.
Murphy, E.
NEUROMUSCULAR DISORDERS, 2017, 27 : S43 - S43
[4] Unraveling a history of overlap: A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV
Crane, Haley M.
Asher, Stephanie
Conway, Laura
Drivas, Theodore G.
Kallish, Staci
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (07)
[5] Type 1 Gaucher's Disease. A Rare Genetic Lipid Metabolic Disorder Whose Diagnosis Was Concealed by Recurrent Malaria Infections in a 12-Year-Old Girl
Mitala, Yekosani
Birungi, Abraham
Mushabe, Branchard
Manzi, John
Ssenkumba, Brian
Atwine, Raymond
Ankunda, Siyadora
JOURNAL OF BLOOD MEDICINE, 2024, 15 : 1 - 7

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