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Agne Larsson

Research Profile

Chemicals & Drugs

Living Beings

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Physiology

Procedures

Neonatal Screening

Anatomy

Fibroblasts

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Publications

TOP 3
Andreas Winkler; Björn Rozell; Zheng-Zheng Shi; Linu Abraham; Katarina Carlsson; Abdelaziz Elgadi; Nuran Ercal; Agne Larsson; Michael W Lieberman; Runa Njålsson; Svante Norgren
Glutathione is essential for early embryogenesis--analysis of a glutathione synthetase knockout mouse.
Marie S I Burstedt; Ellinor Ristoff; Agne Larsson; Lillemor Wachtmeister
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.
Ellinor Ristoff; Marie S I Burstedt; Agne Larsson; L Wachtmeister
Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency.

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All Publications

2011: Andreas Winkler; Björn Rozell; Zheng-Zheng Shi; Linu Abraham; Katarina Carlsson; Abdelaziz Elgadi; Nuran Ercal; Agne Larsson; Michael W Lieberman; Runa Njålsson; Svante Norgren
Glutathione is essential for early embryogenesis--analysis of a glutathione synthetase knockout mouse.
Biochemical and biophysical research communications 2011;412(1):121-6.
2009: Marie S I Burstedt; Ellinor Ristoff; Agne Larsson; Lillemor Wachtmeister
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.
Ophthalmology 2009;116(2):324-31.
2007: Ellinor Ristoff; Marie S I Burstedt; Agne Larsson; L Wachtmeister
Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency.
Journal of inherited metabolic disease 2007;30(1):102.
2007: Ellinor Ristoff; Agne Larsson
Inborn errors in the metabolism of glutathione.
Orphanet journal of rare diseases 2007;2():16.
2005: Jonas Nygren; Ellinor Ristoff; Katarina Carlsson; Lennart Möller; Agne Larsson
Oxidative DNA damage in cultured fibroblasts from patients with hereditary glutathione synthetase deficiency.
Free radical research 2005;39(6):595-601.
2005: Runa Njålsson; Ellinor Ristoff; Katarina Carlsson; Andreas Winkler; Agne Larsson; Svante Norgren
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
Human genetics 2005;116(5):384-9.
2004: Runa Njålsson; Katarina Carlsson; Vikas Bhansali; Jia-Li Luo; Lennart Nilsson; Rudolf Ladenstein; Mary E Anderson; Agne Larsson; Svante Norgren
Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.
The Biochemical journal 2004;381(Pt 2):489-94.
2003: Runa Njålsson; Katarina Carlsson; Andreas Winkler; Agne Larsson; Svante Norgren
Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene.
Human mutation 2003;22(6):497.
2003: Anna Servin; Anna Nordenström; Agne Larsson; Gunilla Bohlin
Prenatal androgens and gender-typed behavior: a study of girls with mild and severe forms of congenital adrenal hyperplasia.
Developmental psychology 2003;39(3):440-50.
2002: Ellinor Ristoff; C Hebert; Runa Njålsson; Svante Norgren; Olav Rooyackers; Agne Larsson
Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?
Journal of inherited metabolic disease 2002;25(7):577-84.
2002: Anna Nordenström; Anna Servin; Gunilla Bohlin; Agne Larsson; Anna Wedell
Sex-typed toy play behavior correlates with the degree of prenatal androgen exposure assessed by CYP21 genotype in girls with congenital adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism 2002;87(11):5119-24.
2002: Bodil Edman Ahlbom; Muhammad Yaqoob; Peter Gustavsson; Hafez Ghulam Abbas; Göran Annerén; Agne Larsson; Claes Wadelius
Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism.
Human genetics 2002;110(2):145-7.
2001: R Njalsson; Svante Norgren; Agne Larsson; C S Huang; Mary E Anderson; Jia-Li Luo
Cooperative binding of gamma-glutamyl substrate to human glutathione synthetase.
Biochemical and biophysical research communications 2001;289(1):80-4.
2001: Anna Nordenström; Anna Wedell; Lars Hagenfeldt; Claude Marcus; Agne Larsson
Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants.
Pediatrics 2001;108(4):E68.
2001: Ellinor Ristoff; E Mayatepek; Agne Larsson
Long-term clinical outcome in patients with glutathione synthetase deficiency.
The Journal of pediatrics 2001;139(1):79-84.
2001: Agne Larsson
Neonatal screening for metabolic, endocrine, infectious, and genetic disorders. Current and future directions.
Clinics in perinatology 2001;28(2):449-61.
2001: Encarnació Riudor; José Antonio Arranz; R Alvarez; Katarina Carlsson; Mireia Del Toro; F Salmerón; F Piñol; Ellinor Ristoff; M Sentis; Agne Larsson
Massive 5-oxoprolinuria with normal 5-oxoprolinase and glutathione synthetase activities.
Journal of inherited metabolic disease 2001;24(3):404-6.
2000: Runa Njålsson; Katarina Carlsson; B Olin; B Carlsson; LA Whitbread; Galina Polekhina; Michael W Parker; Svante Norgren; Bengt Mannervik; Philip G Board; Agne Larsson
Kinetic properties of missense mutations in patients with glutathione synthetase deficiency.
The Biochemical journal 2000;349(Pt 1):275-9.
2000: Ellinor Ristoff; C Augustson; J Geissler; T de Rijk; Katarina Carlsson; Jia-Li Luo; K Andersson; Ron S Weening; Rob van Zwieten; Agne Larsson; Mustafa Yavuz Köker
A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia.
Blood 2000;95(7):2193-6.
1999: Ellinor Ristoff; C Augustson; Agne Larsson
Generalized glutathione synthetase deficiency and pregnancy.
Journal of inherited metabolic disease 1999;22(6):758-9.
1999: Anna Nordenström; A Thilén; Lars Hagenfeldt; Agne Larsson; Anna Wedell
Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism 1999;84(5):1505-9.
1998: Ellinor Ristoff; Agne Larsson
Patients with genetic defects in the gamma-glutamyl cycle.
Chemico-biological interactions 1998;111-112():113-21.
1998: A Thil'en; Anna Nordenström; Lars Hagenfeldt; Ulrika von Döbeln; Claes Guthenberg; Agne Larsson
Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden.
Pediatrics 1998;101(4):E11.
1998: Bodil Edman Ahlbom; Muhammad Yaqoob; Göran Annerén; Agne Larsson; A Ilicki; Claes Wadelius
Linkage analysis excludes familial congenital hypothyroidism from chromosome 21.
Genetic counseling (Geneva, Switzerland) 1998;9(4):265-70.
1997: Niklas Dahl; Maritta Pigg; E Ristoff; R Gali; B Carlsson; Bengt Mannervik; Agne Larsson; P Board
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
Human molecular genetics 1997;6(7):1147-52.
1997: B D Ahlbom; Muhammad Yaqoob; Agne Larsson; A Ilicki; Göran Annerén; Claes Wadelius
Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene.
Human genetics 1997;99(2):186-90.
1991: A Ilicki; Agne Larsson; F Anders Karlsson
Circulating thyroid antibodies in congenital hypothyroidism.
Acta paediatrica Scandinavica 1991;80(8-9):805-11.
1991: A Ilicki; Agne Larsson
Psychological development at 7 years of age in children with congenital hypothyroidism. Timing and dosage of initial treatment.
Acta paediatrica Scandinavica 1991;80(2):199-204.
1990: A Ilicki; U B Ericsson; Agne Larsson; W Mortensson; J Thorell
The value of neonatal serum thyroglobulin determinations in the follow-up of patients with congenital hypothyroidism.
Acta paediatrica Scandinavica 1990;79(8-9):769-75.
1990: A Ilicki; Agne Larsson; W Mortensson
Neonatal skeletal maturation in congenital hypothyroidism and its prognostic value for psychomotor development at 3 years in patients treated early.
Hormone research 1990;33(6):260-4.
1988: A Ilicki; Agne Larsson
Psychomotor development of children with congenital hypothyroidism diagnosed by neonatal screening.
Acta paediatrica Scandinavica 1988;77(1):142-7.