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

Carrozzo, Rosalba (author)
Verrigni, Daniela (author)
Rasmussen, Magnhild (author)
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de Coo, Rene (author)
Amartino, Hernan (author)
Bianchi, Marzia (author)
Buhas, Daniela (author)
Mesli, Samir (author)
Naess, Karin (author)
Karolinska Institutet
Born, Alfred Peter (author)
Woldseth, Berit (author)
Prontera, Paolo (author)
Batbayli, Mustafa (author)
Ravn, Kirstine (author)
Joensen, Fróði (author)
Cordelli, Duccio M (author)
Santorelli, Filippo Maria (author)
Tulinius, Mar, 1953 (author)
Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
Darin, Niklas, 1964 (author)
Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
Duno, Morten (author)
Jouvencel, Philippe (author)
Burlina, Alberto (author)
Stangoni, Gabriela (author)
Bertini, Enrico (author)
Redonnet-Vernhet, Isabelle (author)
Wibrand, Flemming (author)
Dionisi-Vici, Carlo (author)
Uusimaa, Johanna (author)
Vieira, Paivi (author)
Osorio, Andrés Nascimento (author)
McFarland, Robert (author)
Taylor, Robert W (author)
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
Ostergaard, Elsebet (author)
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 (creator_code:org_t)
2015-10-16
2016
English.
In: Journal of inherited metabolic disease. - : Wiley. - 1573-2665 .- 0141-8955. ; 39:2, s. 243-252
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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)

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