Schutgens RB - Search Results

1

Lethal hypoglycemia in a child with a deficiency of 3-hydroxy-3-methylglutarylcoenzyme A lyase.

Schutgens RB, Heymans H, Ketel A, Veder HA, Duran M, Ketting D, Wadman SK. Schutgens RB, et al. J Pediatr. 1979 Jan;94(1):89-91. doi: 10.1016/s0022-3476(79)80364-9. J Pediatr. 1979. PMID: 758433 No abstract available.

2

3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency: postnatal management following prenatal diagnosis by analysis of maternal urine.

Duran M, Schutgens RB, Ketel A, Heymans H, Bertssen MW, Ketting D, Wadman SK. Duran M, et al. Among authors: schutgens rb. J Pediatr. 1979 Dec;95(6):1004-7. doi: 10.1016/s0022-3476(79)80297-8. J Pediatr. 1979. PMID: 91680 No abstract available.

3

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

4

Clinical and biochemical observations on a child with a deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase.

Ketel A, Ket JL, Schutgens RB, Duran M, Wadman SK. Ketel A, et al. Among authors: schutgens rb. J Inherit Metab Dis. 1980;3(3):89-90. doi: 10.1007/BF02312535. J Inherit Metab Dis. 1980. PMID: 6158624 No abstract available.

5

Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.

Schutgens RB, Middleton B, vd Blij JF, Oorthuys JW, Veder HA, Vulsma T, Tegelaers WH. Schutgens RB, et al. Eur J Pediatr. 1982 Sep;139(1):39-42. doi: 10.1007/BF00442077. Eur J Pediatr. 1982. PMID: 7173255 No abstract available.

6

The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia.

Duran M, Bruinvis L, Ketting D, Kamerling JP, Wadman SK, Schutgens RB. Duran M, et al. Among authors: schutgens rb. Biomed Mass Spectrom. 1982 Jan;9(1):1-5. doi: 10.1002/bms.1200090102. Biomed Mass Spectrom. 1982. PMID: 7059658

7

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

8

Clinical recognition of patients affected by a peroxisomal disorder: a retrospective study in 40 patients.

Theil AC, Schutgens RB, Wanders RJ, Heymans HS. Theil AC, et al. Among authors: schutgens rb. Eur J Pediatr. 1992 Feb;151(2):117-20. doi: 10.1007/BF01958955. Eur J Pediatr. 1992. PMID: 1371465

9

Peroxisomal disorders: a newly recognised group of genetic diseases.

Schutgens RB, Heymans HS, Wanders RJ, van den Bosch H, Tager JM. Schutgens RB, et al. Eur J Pediatr. 1986 Feb;144(5):430-40. doi: 10.1007/BF00441734. Eur J Pediatr. 1986. PMID: 3514227 Review. No abstract available.

10

[Diagnosis of hereditary metabolic diseases using chromatographic technics].

Veder HA, Schutgens RB. Veder HA, et al. Among authors: schutgens rb. Tijdschr Kindergeneeskd. 1984 Dec;52(6):238-44. Tijdschr Kindergeneeskd. 1984. PMID: 6528321 Dutch.

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