SURF1 deficiency: A multi-centre natural history study

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Wedatilake, Yehani ^a   Brown, Ruth M ^b   McFarland, Robert ^c   Yaplito Lee, Joy ^d   Morris, Andrew A M ^e   Champion, Mike ^f   Jardine, Phillip E ^g   Clarke, Antonia ^h   Thorburn, David R ^d   Taylor, Robert W ^c   Land, John M ⁱ   Forrest, Katharine ^j   Dobbie, Angus ^k   Simmons, Louise ^l   Aasheim, Erlend T ^m   Ketteridge, David ⁿ   Hanrahan, Donncha ^o   Chakrapani, Anupam ^l   Brown, Garry K ^b   Rahman, Shamima ^a,p  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^f EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^g BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^h ST GEORGE'S UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

ⁱ NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^j UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^k Yorkshire Regional Genetics Service   (United Kingdom)

^l BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^m ADDENBROOKE S HOSPITAL   (United Kingdom)

ⁿ WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^o ROYAL BELFAST HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^p GREAT ORMOND STREET HOSPITAL   (United Kingdom)

more..

Author keywords

Complex IV; Cytochrome c oxidase; Leigh syndrome; Mitochondrial disease; SURF1

Indexed keywords

CYTOCHROME C OXIDASE; LACTIC ACID; MEMBRANE PROTEIN; MITOCHONDRIAL PROTEIN; SURF-1 PROTEIN;

ADOLESCENT; ADULT; BIOPSY; BLOOD; BRAIN DISEASE; CARDIOMYOPATHY; CEREBROSPINAL FLUID; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; EYE MOVEMENT DISORDER; FEEDING; FEMALE; FIBROBLAST; HISTOCHEMISTRY; HUMAN; HYPERTRICHOSIS; INFANT; MALE; MONOGENIC DISORDER; MOTOR DYSFUNCTION; MULTICENTER STUDY; MUSCLE CONTRACTION; MUSCLE HYPOTONIA; MUTATION; NEUROIMAGING; OPTIC NERVE ATROPHY; PERIPHERAL NEUROPATHY; PHENOTYPE; PRESCHOOL CHILD; RESPIRATORY FAILURE; REVIEW; SCHOOL CHILD; SEIZURE; SURF1 DEFICIENCY; SURVIVAL; VOMITING; WEIGHT GAIN; CLINICAL TRIAL; DEFICIENCY; GENETICS; LEIGH DISEASE; METABOLISM; NEWBORN; PATHOLOGY; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; ELECTRON TRANSPORT COMPLEX IV; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LEIGH DISEASE; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; YOUNG ADULT;

EID: 84879821890     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-96     Document Type: Review

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