E. Ristoff

发表

Oxidative DNA damage in cultured fibroblasts from patients with hereditary glutathione synthetase deficiency

L. Möller, A. Larsson, J. Nygren, 2005, Free radical research.

Inborn errors in the metabolism of glutathione

A. Larsson, E. Ristoff, 2007, Orphanet journal of rare diseases.

Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.

B. Mannervik, A. Larsson, N. Dahl, 1997, Human molecular genetics.

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

S. Norgren, A. Winkler, A. Larsson, 2005, Human Genetics.

Diagnosis of glutathione synthetase deficiency in newborn screening

E. Mayatepek, R. Fingerhut, M. Vogel, 2009, Journal of Inherited Metabolic Disease.

Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to γ-glutamylcysteine synthetase deficiency in a patient of Moroccan origin

S. Kalko, E. Beutler, T. Gelbart, 2007, Haematologica.

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

E. Haddad, S. Nielsen, K. Klingel, 2002, Nature Genetics.

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

S. Norgren, O. Rooyackers, A. Larsson, 2002, Journal of Inherited Metabolic Disease.

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

A. Larsson, D. Roos, R. van Zwieten, 2000, Blood.

Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.

A. Larsson, E. Ristoff, L. Wachtmeister, 2009, Ophthalmology.

Generalized glutathione synthetase deficiency and pregnancy

A. Larsson, E. Ristoff, C. Augustson, 1999, Journal of Inherited Metabolic Disease.

Long-term clinical outcome in patients with glutathione synthetase deficiency.

E. Mayatepek, A. Larsson, E. Ristoff, 2001, The Journal of pediatrics.

Patients with genetic defects in the ?-glutamyl cycle 1 The Conference on Glutathione and Glutathion

A. Larsson, E. Ristoff, 1998 .

Disorders of the γ-Glutamyl Cycle

A. Larsson, E. Ristoff, 2006 .

Glutathione synthetase deficiency associated with antenatal cerebral bleeding

F. Groenendaal, M. Durán, L. Dorland, 2004, Journal of Inherited Metabolic Disease.

Oxidative stress in inborn errors of metabolism: Lessons from glutathione deficiency

A. Larsson, E. Ristoff, 2002, Journal of Inherited Metabolic Disease.

Orphanet Journal of Rare Diseases BioMed Central Review Inborn errors in the metabolism of glutathione

A. Larsson, E. Ristoff, 2007 .

Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities

B. Poorthuis, G. Ruijter, E. Ristoff, 2006, Journal of Inherited Metabolic Disease.

Recurrent high anion gap metabolic acidosis secondary to 5-oxoproline (pyroglutamic acid).

E. Ristoff, K. Carlsson, R. Njålsson, 2005, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Massive 5-oxoprolinuria with normal 5-oxoprolinase and glutathione synthetase activities

J. A. Arranz, A. Larsson, E. Ristoff, 2001, Journal of Inherited Metabolic Disease.

Inborn errors in the metabolism of glutathione

A. Larsson, E. Ristoff, 2007 .