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Holme, Elisabeth
133  results:
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1

Broad phenotypic variability in patients with complex I def..:

Björkman, Kristoffer ; Sofou, Kalliopi ; Darin, Niklas...
Mitochondrion.  21 (2015)  - p. 33-40 , 2015
Link: https://doi.org/10.1016/..
 
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2

Whole exome sequencing reveals mutations inNARS2andPARS2, e..:

Sofou, Kalliopi ; Kollberg, Gittan ; Holmström, Maria...
Molecular Genetics & Genomic Medicine.  3 (2014)  1 - p. 59-68 , 2014
Link: https://doi.org/10.1002/..
 
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3

Subnormal levels of POLγA cause inefficient initiation of l..:

Roos, Sara ; Macao, Bertil ; Fusté, Javier Miralles...
Human Molecular Genetics.  22 (2013)  12 - p. 2411-2422 , 2013
Link: https://doi.org/10.1093/..
 
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4

Effect of nitisinone (NTBC) treatment on the clinical cours..:

Larochelle, Jean ; Alvarez, Fernando ; Bussières, Jean-François...
Molecular Genetics and Metabolism.  107 (2012)  1-2 - p. 49-54 , 2012
Link: https://doi.org/10.1016/..
 
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5

Phenotypic and genotypic variability in Alpers syndrome:

Sofou, Kalliopi ; Moslemi, Ali-Reza ; Kollberg, Gittan...
European Journal of Paediatric Neurology.  16 (2012)  4 - p. 379-389 , 2012
Link: https://doi.org/10.1016/..
 
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6

Plasma succinylacetone is persistently raised after liver t..:

Bartlett, David C. ; Preece, Mary Anne ; Holme, Elisabeth...
Journal of Inherited Metabolic Disease.  36 (2012)  1 - p. 15-20 , 2012
Link: https://doi.org/10.1007/..
 
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7

Deoxyribonucleotide Metabolism in Cycling and Resting Human..:

Pontarin, Giovanna ; Ferraro, Paola ; Rampazzo, Chiara...
Journal of Biological Chemistry.  286 (2011)  13 - p. 11132-11140 , 2011
Link: https://doi.org/10.1074/..
 
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8

Transient restoration of succinate dehydrogenase activity a..:

Kollberg, Gittan ; Melberg, Atle ; Holme, Elisabeth.
Neuromuscular Disorders.  21 (2011)  2 - p. 115-120 , 2011
Link: https://doi.org/10.1016/..
 
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9

Profound biotinidase deficiency: a rare disease among nativ..:

Ohlsson, Annika ; Guthenberg, Claes ; Holme, Elisabeth.
Journal of Inherited Metabolic Disease.  33 (2010)  S3 - p. 175-180 , 2010
Link: https://doi.org/10.1007/..
 
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10

IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduri:

Kranendijk, Martijn ; Struys, Eduard A. ; van Schaftingen, Emile...
Science.  330 (2010)  6002 - p. 336 ff. , 2010
Link: https://www.jstor.org/st..
 
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11

IDH2Mutations in Patients withd-2-Hydroxyglutaric Aciduria:

Kranendijk, Martijn ; Struys, Eduard A. ; van Schaftingen, Emile...
Science.  330 (2010)  6002 - p. 336-336 , 2010
Link: https://doi.org/10.1126/..
 
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12

A novel mutation causing mild, atypical fumarylacetoacetase..:

Cassiman, David ; Zeevaert, Renate ; Holme, Elisabeth..
Orphanet Journal of Rare Diseases.  4 (2009)  1 - p. , 2009
Link: https://doi.org/10.1186/..
 
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13

A novel homozygous RRM2B missense mutation in association w..:

Kollberg, Gittan ; Darin, Niklas ; Benan, Karin...
Neuromuscular Disorders.  19 (2009)  2 - p. 147-150 , 2009
Link: https://doi.org/10.1016/..
 
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14

A novel missense mutation in SUCLG1 associated with mitocho..:

Ostergaard, Elsebet ; Schwartz, Marianne ; Batbayli, Mustafa...
European Journal of Pediatrics.  169 (2009)  2 - p. 201-205 , 2009
Link: https://doi.org/10.1007/..
 
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15

Clinical manifestation and a new ISCU mutation in iron–sulp..:

Kollberg, Gittan ; Tulinius, Már ; Melberg, Atle...
Brain.  132 (2009)  8 - p. 2170-2179 , 2009
Link: https://doi.org/10.1093/..
 
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