Schutgens RB - Search Results

1

Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method.

Wanders RJ, Zoeters PH, Schutgens RB, de Klerk JB, Duran M, Wadman SK, van Sprang FJ, Hemmes AM, Voorbrood BS. Wanders RJ, et al. Among authors: schutgens rb. Clin Chim Acta. 1990 Aug 31;189(3):327-34. doi: 10.1016/0009-8981(90)90314-i. Clin Chim Acta. 1990. PMID: 2225463

2

Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts.

Duran M, Ketting D, Wadman SK, Jakobs C, Schutgens RB, Veder HA. Duran M, et al. Among authors: schutgens rb. Clin Chim Acta. 1978 Dec 1;90(2):187-93. doi: 10.1016/0009-8981(78)90521-1. Clin Chim Acta. 1978. PMID: 719902

3

Human liver L-alanine-glyoxylate aminotransferase: characteristics and activity in controls and hyperoxaluria type I patients using a simple spectrophotometric method.

Wanders RJ, Ruiter J, van Roermund CW, Schutgens RB, Ofman R, Jurriaans S, Tager JM. Wanders RJ, et al. Among authors: schutgens rb. Clin Chim Acta. 1990 Aug 15;189(2):139-44. doi: 10.1016/0009-8981(90)90084-6. Clin Chim Acta. 1990. PMID: 2397596

4

3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method.

Wanders RJ, Schutgens RB, Zoeters PH. Wanders RJ, et al. Among authors: schutgens rb. Clin Chim Acta. 1988 Jan 15;171(1):95-101. doi: 10.1016/0009-8981(88)90294-x. Clin Chim Acta. 1988. PMID: 2450702

5

Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria via enzyme activity measurements in chorionic villi, chorionic villous fibroblasts or amniocytes using a simple spectrophotometric method.

Wanders RJ, Schutgens RB, Zoeters BH. Wanders RJ, et al. Among authors: schutgens rb. J Inherit Metab Dis. 1988;11(4):430. doi: 10.1007/BF01800436. J Inherit Metab Dis. 1988. PMID: 2468820 No abstract available.

6

Accumulation and impaired in vivo metabolism of di- and trihydroxycholestanoic acid in two patients.

Wanders RJ, Casteels M, Mannaerts GP, van Roermund CW, Schutgens RB, Kozich V, Zeman J, Hyanek J. Wanders RJ, et al. Among authors: schutgens rb. Clin Chim Acta. 1991 Oct 31;202(3):123-32. doi: 10.1016/0009-8981(91)90043-c. Clin Chim Acta. 1991. PMID: 1839974

7

Prenatal diagnosis of inborn errors in peroxisomal beta-oxidation.

Wanders RJ, Schutgens RB, van den Bosch H, Tager JM, Kleijer WJ. Wanders RJ, et al. Among authors: schutgens rb. Prenat Diagn. 1991 Apr;11(4):253-61. doi: 10.1002/pd.1970110407. Prenat Diagn. 1991. PMID: 1896411

8

The inborn errors of peroxisomal beta-oxidation: a review.

Wanders RJ, van Roermund CW, Schutgens RB, Barth PG, Heymans HS, van den Bosch H, Tager JM. Wanders RJ, et al. Among authors: schutgens rb. J Inherit Metab Dis. 1990;13(1):4-36. doi: 10.1007/BF01799330. J Inherit Metab Dis. 1990. PMID: 2109148 Review.

9

Prenatal and perinatal diagnosis of peroxisomal disorders.

Schutgens RB, Schrakamp G, Wanders RJ, Heymans HS, Tager JM, van den Bosch H. Schutgens RB, et al. J Inherit Metab Dis. 1989;12 Suppl 1:118-34. doi: 10.1007/BF01799291. J Inherit Metab Dis. 1989. PMID: 2509803 Review.

10

Familial NADH: Q1 oxidoreductase (complex I) deficiency: variable expression and possible treatment.

Wijburg FA, Barth PG, Ruitenbeek W, Wanders RJ, Vos GD, Ploos van Amstel SL, Schutgens RB. Wijburg FA, et al. Among authors: schutgens rb. J Inherit Metab Dis. 1989;12 Suppl 2:349-51. doi: 10.1007/BF03335419. J Inherit Metab Dis. 1989. PMID: 2512441 No abstract available.

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