Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

Journal of Inherited Metabolic Disease

Volumn 39, Issue 2, 2016, Pages 243-252

  Carrozzo, Rosalba ^a   Verrigni, Daniela ^a   Rasmussen, Magnhild ^b   de Coo, Rene ^c   Amartino, Hernan ^d   Bianchi, Marzia ^a   Buhas, Daniela ^e   Mesli, Samir ^f   Naess, Karin ^g   Born, Alfred Peter ^h   Woldseth, Berit ^b   Prontera, Paolo ⁱ   Batbayli, Mustafa ^h   Ravn, Kirstine ^h   Joensen, Fróði ^j   Cordelli, Duccio M ^k   Santorelli, Filippo Maria ^l   Tulinius, Mar ^m   Darin, Niklas ^m   Duno, Morten ^h   Jouvencel, Philippe ⁿ   Burlina, Alberto ^o   Stangoni, Gabriela ⁱ   Bertini, Enrico ^a   Redonnet Vernhet, Isabelle ^f   Wibrand, Flemming ^h   Dionisi Vici, Carlo ^a   Uusimaa, Johanna ^p   Vieira, Paivi ^p   Osorio, Andrés Nascimento ^q   McFarland, Robert ^r   Taylor, Robert W ^r   Holme, Elisabeth ^s   Ostergaard, Elsebet ^h   more..

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d UNIVERSIDAD AUSTRAL   (Argentina)

^e MONTREAL CHILDREN S HOSPITAL   (Canada)

^f BORDEAUX UNIVERSITY HOSPITAL   (France)

^g KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^h Rigshospitalet   (Denmark)

ⁱ SANTA MARIA DELLA MISERICORDIA HOSPITAL   (Italy)

^j National Hospital of the Faroe Islands   (Faroe Islands)

^k UNIVERSITY OF BOLOGNA   (Italy)

^l DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^m QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

ⁿ Children's Hospital   (France)

^o UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^p UNIVERSITY OF OULU   (Finland)

^q INSTITUTO DE SALUD CARLOS III   (Spain)

^r NEWCASTLE UNIVERSITY   (United Kingdom)

^s UNIVERSITY OF GOTHENBURG   (Sweden)

more..

Author keywords

[No Author keywords available]

Indexed keywords

METHYLMALONIC ACID; SUCCINATE COENZYME A LIGASE; MITOCHONDRIAL DNA; STOP CODON; SUCLA2 PROTEIN, HUMAN; SUCLG1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BLOOD LEVEL; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; LIVER DISEASE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEUROIMAGING; NONSENSE MUTATION; RESPIRATORY CHAIN; SUCCINATE COENZYME A LIGASE DEFICIENCY; SUCLA2 GENE; SUCLG1 GENE; SURVIVAL; URINARY EXCRETION; AMINO ACID SEQUENCE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA MUTATIONAL ANALYSIS; GENETICS; GENOTYPE; METABOLISM; MITOCHONDRIAL ENCEPHALOMYOPATHY; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; PROCEDURES; STOP CODON; YOUNG ADULT;

ADOLESCENT; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METHYLMALONIC ACID; MITOCHONDRIAL DISEASES; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION, MISSENSE; PHENOTYPE; SUCCINATE-COA LIGASES; YOUNG ADULT;

EID: 84958155241     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-015-9894-9     Document Type: Article

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