共 3 条
- [1] RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, autoinflammation, recurrent infections, skeletal, and cardiac myopathyNEUROMUSCULAR DISORDERS, 2020, 30 : S139 - S140Phadke, R.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst, London, England UCL Queen Sq Inst, London, EnglandHedberg-Oldfors, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Gothenburg, Sweden UCL Queen Sq Inst, London, EnglandScalco, R.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst, London, England UCL Queen Sq Inst, London, EnglandLowe, D.论文数: 0 引用数: 0 h-index: 0机构: Royal Free Hosp, London, England UCL Queen Sq Inst, London, EnglandAshworth, M.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, London, England UCL Queen Sq Inst, London, EnglandNovelli, M.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL Queen Sq Inst, London, EnglandVara, R.论文数: 0 引用数: 0 h-index: 0机构: Evelina Childrens Hosp, London, England UCL Queen Sq Inst, London, EnglandMerwick, A.论文数: 0 引用数: 0 h-index: 0机构: Beaumont Hosp, Dublin, Ireland UCL Queen Sq Inst, London, EnglandAmer, H.论文数: 0 引用数: 0 h-index: 0机构: UCLH NHS Fdn Trust, London, England UCL Queen Sq Inst, London, EnglandSofat, R.论文数: 0 引用数: 0 h-index: 0机构: UCLH NHS Fdn Trust, London, England UCL Queen Sq Inst, London, EnglandSugarman, M.论文数: 0 引用数: 0 h-index: 0机构: Salford Royal Hosp, Salford, Lancs, England UCL Queen Sq Inst, London, EnglandJovanovic, A.论文数: 0 引用数: 0 h-index: 0机构: Salford Royal Hosp, Salford, Lancs, England UCL Queen Sq Inst, London, EnglandRoberts, M.论文数: 0 引用数: 0 h-index: 0机构: Salford Royal Hosp, Salford, Lancs, England UCL Queen Sq Inst, London, EnglandNakou, V.论文数: 0 引用数: 0 h-index: 0机构: Evelina Childrens Hosp, London, England UCL Queen Sq Inst, London, EnglandKing, A.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, London, England UCL Queen Sq Inst, London, EnglandBodi, I.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, London, England UCL Queen Sq Inst, London, EnglandJungbluth, H.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, London, England UCL Queen Sq Inst, London, England论文数: 引用数: h-index:机构:Murphy, E.论文数: 0 引用数: 0 h-index: 0机构: UCLH NHS Fdn Trust, London, England UCL Queen Sq Inst, London, England
- [2] 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 myopathyNEUROMUSCULAR DISORDERS, 2017, 27 : S43 - S43Phadke, R.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Natl Hosp Neurol & Neurosurg, London, England UCL Inst Neurol, Natl Hosp Neurol & Neurosurg, London, EnglandScalco, R. S.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Natl Hosp Neurol & Neurosurg, London, England UCL Inst Neurol, Natl Hosp Neurol & Neurosurg, London, England论文数: 引用数: h-index:机构:Murphy, E.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Natl Hosp Neurol & Neurosurg, London, England UCL Inst Neurol, Natl Hosp Neurol & Neurosurg, London, England
- [3] 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 literatureJOURNAL OF INHERITED METABOLIC DISEASE, 2020, 43 (05) : 1002 - 1013Phadke, Rahul论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL, MRC Ctr Neuromuscular Dis, Queen Sq, London, England Natl Hosp Neurol & Neurosurg, Div Neuropathol, Queen Sq, London, England Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandHedberg-Oldfors, Carola论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Inst Biomed, Dept Pathol & Genet, Gothenburg, Sweden Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandScalco, Renata S.论文数: 0 引用数: 0 h-index: 0机构: UCL, MRC Ctr Neuromuscular Dis, Queen Sq, London, England Minist Educ Brazil, CAPES Fdn, Brasilia, DF, Brazil Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandLowe, David M.论文数: 0 引用数: 0 h-index: 0机构: Royal Free Hosp, Dept Immunol, London, England UCL, Inst Immun & Transplantat, Royal Free Campus, London, England Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandAshworth, Michael论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Histopathol, London, England Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandNovelli, Marco论文数: 0 引用数: 0 h-index: 0机构: Univ Coll London NHS Fdn Trust, Dept Histopathol, London, England Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandVara, Roshni论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, Dept Paediat Inherited Metab Dis, London, England Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandMerwick, Aine论文数: 0 引用数: 0 h-index: 0机构: Beaumont Hosp, Dept Neurol, Dublin, Ireland Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandAmer, Halima论文数: 0 引用数: 0 h-index: 0机构: Univ Coll London NHS Fdn Trust, Dept Clin Pharmacol, London, England Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandSofat, Reecha论文数: 0 引用数: 0 h-index: 0机构: Univ Coll London NHS Fdn Trust, Dept Clin Pharmacol, London, England Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandSugarman, Max论文数: 0 引用数: 0 h-index: 0机构: Salford Royal NHS Fdn Trust, Mark Holland Metab Unit, Salford, Lancs, England Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandJovanovic, Ana论文数: 0 引用数: 0 h-index: 0机构: Salford Royal NHS Fdn Trust, Mark Holland Metab Unit, Salford, Lancs, England Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandRoberts, Mark论文数: 0 引用数: 0 h-index: 0机构: Salford Royal NHS Fdn Trust, Great Manchester Neurosci Unit, Salford, Lancs, England Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandNakou, Vasiliki论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas Hosp NHS Fdn Trust, Evelina London Childrens Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandKing, Andrew论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, Dept Clin Neuropathol, London, England Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandBodi, Istvan论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, Dept Clin Neuropathol, London, England Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandJungbluth, Heinz论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas Hosp NHS Fdn Trust, Evelina London Childrens Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England Kings Coll London, Randall Div Cell & Mol Biophys, Muscle Signaling Sect, London, England Kings Coll London, Inst Psychiat Psychol & Neurosci, Dept Basic & Clin Neurosci, London, England Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England论文数: 引用数: h-index:机构:Murphy, Elaine论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Charles Dent Metab Unit, Queen Sq, London, England Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England