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

R Carrozzo; D Verrigni; M Rasmussen; IFM Coo; H Amartino; M Bianchi; D Buhas; S Mesli; K Naess; A P Born; B Woldseth; P Prontera; M Batbayli; K Ravn; F Joensen; D M Cordelli; FM Santorelli; M Tulinius; N Darin; M Duno; P Jouvencel; A Burlina; G Stangoni; E Bertini; I Redonnet-Vernhet; F Wibrand; C Dionisi-Vici; J Uusimaa; P Vieira; A N Osorio; R McFarland; RW Taylor; E Holme; E Ostergaard

doi:10.1007/s10545-015-9894-9

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

R Carrozzo, D Verrigni, M Rasmussen, IFM Coo, H Amartino, M Bianchi, D Buhas, S Mesli, K Naess, A P Born, B Woldseth, P Prontera, M Batbayli, K Ravn, F Joensen, D M Cordelli, FM Santorelli, M Tulinius, N Darin, M DunoP Jouvencel, A Burlina, G Stangoni, E Bertini, I Redonnet-Vernhet, F Wibrand, C Dionisi-Vici, J Uusimaa, P Vieira, A N Osorio, R McFarland, RW Taylor, E Holme, E Ostergaard

Neurology

Research output: Contribution to journal › Article › Academic › peer-review

53 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	243-252
Number of pages	10
Journal	Journal of Inherited Metabolic Disease
Volume	39
Issue number	2
DOIs	https://doi.org/10.1007/s10545-015-9894-9
Publication status	Published - 2016

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Carrozzo, R., Verrigni, D., Rasmussen, M., Coo, IFM., Amartino, H., Bianchi, M., Buhas, D., Mesli, S., Naess, K., Born, A. P., Woldseth, B., Prontera, P., Batbayli, M., Ravn, K., Joensen, F., Cordelli, D. M., Santorelli, FM., Tulinius, M., Darin, N., ... Ostergaard, E. (2016). Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. Journal of Inherited Metabolic Disease, 39(2), 243-252. https://doi.org/10.1007/s10545-015-9894-9

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

author = "R Carrozzo and D Verrigni and M Rasmussen and IFM Coo and H Amartino and M Bianchi and D Buhas and S Mesli and K Naess and Born, {A P} and B Woldseth and P Prontera and M Batbayli and K Ravn and F Joensen and Cordelli, {D M} and FM Santorelli and M Tulinius and N Darin and M Duno and P Jouvencel and A Burlina and G Stangoni and E Bertini and I Redonnet-Vernhet and F Wibrand and C Dionisi-Vici and J Uusimaa and P Vieira and Osorio, {A N} and R McFarland and RW Taylor and E Holme and E Ostergaard",

year = "2016",

doi = "10.1007/s10545-015-9894-9",

language = "Undefined/Unknown",

volume = "39",

pages = "243--252",

journal = "Journal of Inherited Metabolic Disease",

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number = "2",

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Carrozzo, R, Verrigni, D, Rasmussen, M, Coo, IFM, Amartino, H, Bianchi, M, Buhas, D, Mesli, S, Naess, K, Born, AP, Woldseth, B, Prontera, P, Batbayli, M, Ravn, K, Joensen, F, Cordelli, DM, Santorelli, FM, Tulinius, M, Darin, N, Duno, M, Jouvencel, P, Burlina, A, Stangoni, G, Bertini, E, Redonnet-Vernhet, I, Wibrand, F, Dionisi-Vici, C, Uusimaa, J, Vieira, P, Osorio, AN, McFarland, R, Taylor, RW, Holme, E & Ostergaard, E 2016, 'Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients', Journal of Inherited Metabolic Disease, vol. 39, no. 2, pp. 243-252. https://doi.org/10.1007/s10545-015-9894-9

TY - JOUR

T1 - Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

AU - Carrozzo, R

AU - Verrigni, D

AU - Rasmussen, M

AU - Coo, IFM

AU - Amartino, H

AU - Bianchi, M

AU - Buhas, D

AU - Mesli, S

AU - Naess, K

AU - Born, A P

AU - Woldseth, B

AU - Prontera, P

AU - Batbayli, M

AU - Ravn, K

AU - Joensen, F

AU - Cordelli, D M

AU - Santorelli, FM

AU - Tulinius, M

AU - Darin, N

AU - Duno, M

AU - Jouvencel, P

AU - Burlina, A

AU - Stangoni, G

AU - Bertini, E

AU - Redonnet-Vernhet, I

AU - Wibrand, F

AU - Dionisi-Vici, C

AU - Uusimaa, J

AU - Vieira, P

AU - Osorio, A N

AU - McFarland, R

AU - Taylor, RW

AU - Holme, E

AU - Ostergaard, E

PY - 2016

Y1 - 2016

U2 - 10.1007/s10545-015-9894-9

DO - 10.1007/s10545-015-9894-9

M3 - Article

SN - 0141-8955

VL - 39

SP - 243

EP - 252

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 2

ER -