Holme, Elisabeth

Progressive Increase of the Mutated Mitochondrial DNA Fraction in Kearns-Sayre Syndrome

Larsson, N.-G., Holme, E., Kristiansson, B., Oldfors, A., & Tulinius, M. (1990) · Pediatric Research

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 324

IDH2 Mutations in Patients with d -2-Hydroxyglutaric Aciduria

Kranendijk, M., Struys, E. A., van Schaftingen, E., Gibson, K. M., Kanhai, W. A., van der Knaap, M. S., Amiel, J., Buist, N. R., Das, A. M., de Klerk, J. B., et al. (2010) · Science

Metabolism and Genetic DisordersBiochemical Acid Research Studies

Cited by 195

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec

Larochelle, J., Alvarez, F., Bussières, J.-F., Chevalier, I., Dallaire, L., Dubois, J., Faucher, F., Fenyves, D., Goodyer, P., Grenier, A., et al. (2012) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 137

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

Carrozzo, R., Verrigni, D., Rasmussen, M., de Coo, R., Amartino, H., Bianchi, M., Buhas, D., Mesli, S., Naess, K., Born, A. P., et al. (2016) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 90

Kinetic study of thymine 7-hydroxylase from Neurospora crassa

Holme, E. (1975) · Biochemistry

Metal-Catalyzed Oxygenation MechanismsBiochemical and Molecular Research

Cited by 74

Autosomal dominant progressive external ophthalmoplegia: Distribution of multiple mitochondrial DNA deletions

Moslemi, A.-R., Melberg, A., Holme, E., & Oldfors, A. (1999) · Neurology

Mitochondrial Function and PathologyParkinson's Disease Mechanisms and Treatments

Cited by 61

Disorders of Tyrosine Metabolism

Chakrapani, A., & Holme, E. (2006) · Inborn Metabolic Diseases

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 52

Lectin‐reactive α‐Fetoprotein in Patients with Tyrosinemia Type I and Hepatocellular Carcinoma

Baumann, U., Duhme, V., Auth, M. K. H., McKiernan, P. J., & Holme, E. (2006) · Journal of Pediatric Gastroenterology and Nutrition

Hepatocellular Carcinoma Treatment and PrognosisMetabolism and Genetic Disorders

Cited by 25

Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1

Bartlett, D. C., Preece, M. A., Holme, E., Lloyd, C., Newsome, P. N., & McKiernan, P. J. (2013) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersPorphyrin Metabolism and Disorders

Cited by 21

Disorders of Tyrosine Degradation

Holme, E. (2006) · Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 5