van Gennip AH - Search Results

1

Adenine nucleotide translocator deficiency in muscle: potential therapeutic value of vitamin E.

Bakker HD, Scholte HR, Van den Bogert C, Jeneson JA, Ruitenbeek W, Wanders RJ, Abeling NG, van Gennip AH. Bakker HD, et al. Among authors: van gennip ah, van den bogert c. J Inherit Metab Dis. 1993;16(3):548-52. doi: 10.1007/BF00711678. J Inherit Metab Dis. 1993. PMID: 7609449 No abstract available.

2

Diagnosis of a new case of trimethylaminuria using direct proton NMR spectroscopy of urine.

Abeling NG, van Gennip AH, Bakker HD, Heerschap A, Engelke U, Wevers RA. Abeling NG, et al. Among authors: van gennip ah. J Inherit Metab Dis. 1995;18(2):182-4. doi: 10.1007/BF00711761. J Inherit Metab Dis. 1995. PMID: 7564241 No abstract available.

3

Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria.

van Gennip AH, van Lenthe H, Abeling NG, Bakker HD, van Kuilenburg AB. van Gennip AH, et al. Among authors: van lenthe h, van kuilenburg ab. J Inherit Metab Dis. 1995;18(2):185-8. doi: 10.1007/BF00711762. J Inherit Metab Dis. 1995. PMID: 7564242 No abstract available.

4

Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalities.

Bakker HD, Rubio Gozalbo ME, van Gennip AH. Bakker HD, et al. Among authors: van gennip ah. J Inherit Metab Dis. 1994;17(5):640-1. doi: 10.1007/BF00711611. J Inherit Metab Dis. 1994. PMID: 7837779 No abstract available.

5

Formiminoglutamic/hydantoinpropionic aciduria in three patients with different tumours.

van Gennip AH, Abeling NG, Nijenhuis AA, Voûte PA, Bakker HD. van Gennip AH, et al. J Inherit Metab Dis. 1994;17(5):642-3. doi: 10.1007/BF00711613. J Inherit Metab Dis. 1994. PMID: 7837781 No abstract available.

6

Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis.

Bakker HD, Scholte HR, Jeneson JA, Busch HF, Abeling NG, van Gennip AH. Bakker HD, et al. Among authors: van gennip ah. J Inherit Metab Dis. 1994;17(2):196-204. doi: 10.1007/BF00711617. J Inherit Metab Dis. 1994. PMID: 7967474

7

Clinical and biochemical findings in six patients with pyrimidine degradation defects.

van Gennip AH, Abeling NG, Stroomer AE, van Lenthe H, Bakker HD. van Gennip AH, et al. Among authors: van lenthe h. J Inherit Metab Dis. 1994;17(1):130-2. doi: 10.1007/BF00735416. J Inherit Metab Dis. 1994. PMID: 8051923 No abstract available.

8

The detection of molybdenum cofactor deficiency: clinical symptomatology and urinary metabolite profile.

van Gennip AH, Abeling NG, Stroomer AE, Overmars H, Bakker HD. van Gennip AH, et al. J Inherit Metab Dis. 1994;17(1):142-5. doi: 10.1007/BF00735420. J Inherit Metab Dis. 1994. PMID: 8051926 No abstract available.

9

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: absence of clinical symptoms due to a self-imposed dietary fat and protein restriction.

Bakker HD, Wanders RJ, Schutgens RB, Abeling NG, van Gennip AH. Bakker HD, et al. Among authors: van gennip ah. J Inherit Metab Dis. 1993;16(6):1061-2. doi: 10.1007/BF00711535. J Inherit Metab Dis. 1993. PMID: 8127066 No abstract available.

10

Molybdenum cofactor deficiency can mimic postanoxic encephalopathy.

Bakker HD, Abeling NG, ten Houten R, van den Blij JF, Overweg-Plandsoen WC, Wanders RJ, van Gennip AH. Bakker HD, et al. Among authors: van den blij jf, van gennip ah. J Inherit Metab Dis. 1993;16(5):900-1. doi: 10.1007/BF00714290. J Inherit Metab Dis. 1993. PMID: 8295412 No abstract available.

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