Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

Journal of Inherited Metabolic Disease

Volumn 38, Issue 3, 2015, Pages 445-457

  Broomfield, Alexander ^a   Sweeney, Mary G ^b   Woodward, Cathy E ^b   Fratter, Carl ^c   Morris, Andrew M ^a   Leonard, James V ^d   Abulhoul, Lara ^e   Grunewald, Stephanie ^e,f   Clayton, Peter T ^f   Hanna, Michael G ^b   Poulton, Joanna ^g   Rahman, Shamima ^e,f  

^a MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^b NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^c CHURCHILL HOSPITAL   (United Kingdom)

^d Institute of Child Health ^*  (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

LONG CHAIN ACYL COENZYME A DEHYDROGENASE; MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; CHILD; CLINICAL TRIAL; COHORT ANALYSIS; DEFICIENCY; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; GENE DELETION; GENETICS; HUMAN; INFANT; KAPLAN MEIER METHOD; KEARNS SAYRE SYNDROME; MALE; MULTICENTER STUDY; MUSCLE DISEASE; NEWBORN; PATHOLOGY; PRESCHOOL CHILD; PTOSIS; SKELETAL MUSCLE; YOUNG ADULT;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; ADOLESCENT; ADULT; BLEPHAROPTOSIS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA, MITOCHONDRIAL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; KAPLAN-MEIER ESTIMATE; KEARNS-SAYRE SYNDROME; LIPID METABOLISM, INBORN ERRORS; MALE; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; MUSCULAR DISEASES; SEQUENCE DELETION; YOUNG ADULT;

EID: 84939935465     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9778-4     Document Type: Article

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