Concepedia

Ellinor Ristoff

ER

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Publications

11

Citations

1.2K

H-Index

11

Active since

1999

Affiliations

Karolinska Institutet(Current)

Karolinska University Hospital

Heidelberg University

Umeå University

University Hospital Heidelberg

Ellinor Ristoff is an author at Karolinska Institutet specializing in life sciences, genetics, and enzyme deficiencies.

Publications per year

1999–2009

11

Publications

11

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family

Karl P. Schlingmann, Stefanie Weber, Melanie Peters et al. · Nature Genetics · 2002 · 784 citations

, , +11

Long-term clinical outcome in patients with glutathione synthetase deficiency

Ellinor Ristoff, Ertan Mayatepek, Agne Larsson · The Journal of Pediatrics · 2001 · 93 citations

, , +7

Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency

Runa Nj�lsson, Ellinor Ristoff, Katarina Steen Carlsson et al. · Human Genetics · 2005 · 72 citations

, , +16

Glutathione synthetase deficiency: Is γ‐glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?

Ellinor Ristoff, Christina Hebert, Runa NJÅLSSON et al. · Journal of Inherited Metabolic Disease · 2002 · 51 citations

, , +15

A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia.

Ellinor Ristoff, Camilla Augustson, Judy Geissler et al. · PubMed · 2000 · 49 citations

, , +14

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