Thunell S - Search Results

1

delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.

Plewinska M, Thunell S, Holmberg L, Wetmur JG, Desnick RJ. Plewinska M, et al. Among authors: thunell s. Am J Hum Genet. 1991 Jul;49(1):167-74. Am J Hum Genet. 1991. PMID: 2063868 Free PMC article.

2

Aminolaevulinate dehydratase porphyria in infancy. A clinical and biochemical study.

Thunell S, Holmberg L, Lundgren J. Thunell S, et al. J Clin Chem Clin Biochem. 1987 Jan;25(1):5-14. doi: 10.1515/cclm.1987.25.1.5. J Clin Chem Clin Biochem. 1987. PMID: 3559484

3

Enzymatic defect in a child with hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: immunochemical studies.

Fujita H, Sassa S, Lundgren J, Holmberg L, Thunell S, Kappas A. Fujita H, et al. Among authors: thunell s. Pediatrics. 1987 Dec;80(6):880-5. Pediatrics. 1987. PMID: 3684400

4

Liver transplantation in a boy with acute porphyria due to aminolaevulinate dehydratase deficiency.

Thunell S, Henrichson A, Floderus Y, Groth CG, Eriksson BG, Barkholt L, Nemeth A, Strandvik B, Eleborg L, Holmberg L, et al. Thunell S, et al. Eur J Clin Chem Clin Biochem. 1992 Oct;30(10):599-606. doi: 10.1515/cclm.1992.30.10.599. Eur J Clin Chem Clin Biochem. 1992. PMID: 1493152

5

Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.

Lundin G, Lee JS, Thunell S, Anvret M. Lundin G, et al. Among authors: thunell s. Hum Genet. 1997 Jul;100(1):63-6. doi: 10.1007/s004390050466. Hum Genet. 1997. PMID: 9225970

6

Highly heterogeneous nature of delta-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria.

Maruno M, Furuyama K, Akagi R, Horie Y, Meguro K, Garbaczewski L, Chiorazzi N, Doss MO, Hassoun A, Mercelis R, Verstraeten L, Harper P, Floderus Y, Thunell S, Sassa S. Maruno M, et al. Among authors: thunell s. Blood. 2001 May 15;97(10):2972-8. doi: 10.1182/blood.v97.10.2972. Blood. 2001. PMID: 11342419 Free article.

7

Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.

Lundin G, Wedell A, Thunell S, Anvret M. Lundin G, et al. Among authors: thunell s. Hum Genet. 1994 Jan;93(1):59-62. doi: 10.1007/BF00218914. Hum Genet. 1994. PMID: 8270256

8

Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.

Lundin G, Hashemi J, Floderus Y, Thunell S, Sagen E, Laegreid A, Wassif W, Peters T, Anvret M. Lundin G, et al. Among authors: thunell s. J Med Genet. 1995 Dec;32(12):979-81. doi: 10.1136/jmg.32.12.979. J Med Genet. 1995. PMID: 8825929 Free PMC article.

9

DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria.

Lee JS, Anvret M, Lindsten J, Lannfelt L, Gellerfors P, Wetterberg L, Floderus Y, Thunell S. Lee JS, et al. Among authors: thunell s. Hum Genet. 1988 Aug;79(4):379-81. doi: 10.1007/BF00282182. Hum Genet. 1988. PMID: 2900803

10

Alcoholic beverages in acute porphyria.

Thunell S, Floderus Y, Henrichson A, Moore MR, Meissner P, Sinclair J. Thunell S, et al. J Stud Alcohol. 1992 May;53(3):272-6. doi: 10.15288/jsa.1992.53.272. J Stud Alcohol. 1992. PMID: 1583906

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