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8. Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype
作者:Ann Bowron (1) (2) (3)
Julie Honeychurch (4)
Maggie Williams (4)
Beverley Tsai-Goodman (2) (5)
Nicol Clayton (2)
Lucy Jones (2)
Graham J. Shortland (6)
Shakeel A. Qureshi (7)
Simon J. R. Heales (8) (9)
Colin G. Steward (2) (3)

1. Department of Clinical Biochemistry
; University Hospitals Bristol NHS Trust ; Bristol ; BS2 8HW ; UK
2. NHS Barth Syndrome Service
; Bristol Royal Hospital for Children ; University Hospitals Bristol NHS Trust ; Bristol ; BS2 8BJ ; UK
3. School of Cellular & Molecular Medicine
; School of Medical Sciences ; University Walk ; Bristol ; BS8 1TD ; UK
4. Bristol Genetics Laboratory
; North Bristol NHS Trust ; Bristol ; BS10 5NB ; UK
5. Department of Paediatric Cardiology
; Bristol Royal Hospital for Children ; University Hospitals Bristol NHS Trust ; Bristol ; BS2 8BJ ; UK
6. Department of Metabolic Disease
; University Hospitals Wales ; Cardiff ; CF14 4XW ; UK
7. Department of Paediatric Cardiology
; Evelina Children鈥檚 Hospital ; Guy鈥檚 and St Thomas鈥?NHS Foundation Trust ; London ; SE1 7EH ; UK
8. Department of Chemical Pathology
; Great Ormond Street Hospital NHS Foundation Trust ; London ; WC1N 3JH ; UK
9. University College London Institute of Child Health
; London ; WC1N 1EH ; UK
刊名:Journal of Inherited Metabolic Disease
出版年:2015
10. UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry
作者:Libby Wood (109)
Teresinha Evangelista (109)
Fiona Norwood (110)
Richard Orrell (111)
Marita Pohlschmidt (112)
Mark Busby (113)
Andrew Graham (112)
David Hilton-Jones (114)
Cheryl Longman (115)
Peter Lunt (116)
Mark Roberts (117)
Stuart Watt (112)
Suzanne Watt (112)
Tracey Willis (118)
Hanns Lochm眉ller (109)

109. Institute of Genetic Medicine
; Newcastle University ; Newcastle-upon-Tyne ; UK
110. King鈥檚 College Hospital
; London ; UK
111. Institute of Neurology
; University College London ; London ; UK
112. Muscular Dystrophy Campaign
; London ; UK
113. Bradford Royal Infirmary
; Bradford ; UK
114. Division of Clinical Neurology
; University of Oxford ; Oxford ; UK
115. Southern General Hospital
; Glasgow ; UK
116. National Genetics Education and Development Centre
; Birmingham ; UK
117. Salford Royal
; Manchester ; UK
118. The Robert Jones and Agnes Hunt Orthopaedic Hospital
; Oswestry ; UK
刊名:Orphanet Journal of Rare Diseases
出版年:2014
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