Ellinor Ristoff
Karolinska University Hospital(SE)Karolinska Institutet(SE)
Publications by Year
Research Areas
Sulfur Compounds in Biology, Folate and B Vitamins Research, Amino Acid Enzymes and Metabolism, Glutathione Transferases and Polymorphisms, Metabolism and Genetic Disorders
Most-Cited Works
- → Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family(2002)776 cited
- → Inborn errors in the metabolism of glutathione(2007)146 cited
- → Long-term clinical outcome in patients with glutathione synthetase deficiency(2001)93 cited
- → Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency(2005)71 cited
- → Patients with genetic defects in the γ-glutamyl cycle(1998)58 cited
- → Glutathione synthetase deficiency: Is γ‐glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?(2002)50 cited
- A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia.(2000)
- → Recurrent High Anion Gap Metabolic Acidosis Secondary to 5-Oxoproline (Pyroglutamic Acid)(2005)36 cited
- → Oxidative stress in inborn errors of metabolism: Lessons from glutathione deficiency(2002)23 cited
- → Diagnosis of glutathione synthetase deficiency in newborn screening(2009)20 cited