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Succinate-CoA ligas...
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
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Carrozzo, Rosalba (author)
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Verrigni, Daniela (author)
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Rasmussen, Magnhild (author)
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de Coo, Rene (author)
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Amartino, Hernan (author)
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Bianchi, Marzia (author)
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Buhas, Daniela (author)
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Mesli, Samir (author)
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- Naess, Karin (author)
- Karolinska Institutet
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Born, Alfred Peter (author)
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Woldseth, Berit (author)
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Prontera, Paolo (author)
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Batbayli, Mustafa (author)
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Ravn, Kirstine (author)
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Joensen, Fróði (author)
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Cordelli, Duccio M (author)
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Santorelli, Filippo Maria (author)
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- Tulinius, Mar, 1953 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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- Darin, Niklas, 1964 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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Duno, Morten (author)
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Jouvencel, Philippe (author)
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Burlina, Alberto (author)
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Stangoni, Gabriela (author)
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Bertini, Enrico (author)
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Redonnet-Vernhet, Isabelle (author)
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Wibrand, Flemming (author)
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Dionisi-Vici, Carlo (author)
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Uusimaa, Johanna (author)
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Vieira, Paivi (author)
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Osorio, Andrés Nascimento (author)
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McFarland, Robert (author)
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Taylor, Robert W (author)
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- Holme, Elisabeth, 1947 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
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Ostergaard, Elsebet (author)
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(creator_code:org_t)
- 2015-10-16
- 2016
- English.
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In: Journal of inherited metabolic disease. - : Wiley. - 1573-2665 .- 0141-8955. ; 39:2, s. 243-252
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Abstract
Subject headings
Close
- The encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria is associated with deficiency of succinate-CoA ligase, caused by mutations in SUCLA2 or SUCLG1. We report here 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Carrozzo, Rosalb ...
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Verrigni, Daniel ...
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Rasmussen, Magnh ...
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de Coo, Rene
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Amartino, Hernan
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Bianchi, Marzia
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show more...
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Buhas, Daniela
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Mesli, Samir
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Naess, Karin
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Born, Alfred Pet ...
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Woldseth, Berit
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Prontera, Paolo
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Batbayli, Mustaf ...
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Ravn, Kirstine
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Joensen, Fróði
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Cordelli, Duccio ...
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Santorelli, Fili ...
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Tulinius, Mar, 1 ...
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Darin, Niklas, 1 ...
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Duno, Morten
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Jouvencel, Phili ...
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Burlina, Alberto
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Stangoni, Gabrie ...
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Bertini, Enrico
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Redonnet-Vernhet ...
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Wibrand, Flemmin ...
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Dionisi-Vici, Ca ...
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Uusimaa, Johanna
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Vieira, Paivi
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Osorio, Andrés N ...
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McFarland, Rober ...
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Taylor, Robert W
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Holme, Elisabeth ...
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Ostergaard, Else ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Pediatrics
- Articles in the publication
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Journal of inher ...
- By the university
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University of Gothenburg
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Karolinska Institutet