IJlst L - Search Results

1

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L; Undiagnosed Diseases Network; Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. Ferdinandusse S, et al. Among authors: ijlst l. Genet Med. 2021 Dec;23(12):2467. doi: 10.1038/s41436-021-01189-8. Genet Med. 2021. PMID: 34667295 Free PMC article. No abstract available.

2

A new, simple assay for long-chain acyl-CoA dehydrogenase in cultured skin fibroblasts using stable isotopes and GC-MS.

Niezen-Koning KE, Wanders RJ, Nagel GT, IJlst L, Heymans HS. Niezen-Koning KE, et al. Among authors: ijlst l. Biochim Biophys Acta. 1992 Oct 13;1180(1):28-32. doi: 10.1016/0925-4439(92)90023-g. Biochim Biophys Acta. 1992. PMID: 1390941

3

Long-chain 3-hydroxyacyl-CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: potential for pre- and postnatal diagnosis.

Wanders RJ, Ijlst L. Wanders RJ, et al. Among authors: ijlst l. J Inherit Metab Dis. 1992;15(3):356-8. doi: 10.1007/BF02435975. J Inherit Metab Dis. 1992. PMID: 1405469 No abstract available.

4

Fatty acid beta-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patients.

Wanders RJ, Ijlst L. Wanders RJ, et al. Among authors: ijlst l. Biochim Biophys Acta. 1992 Jan 16;1138(1):80-4. doi: 10.1016/0925-4439(92)90155-g. Biochim Biophys Acta. 1992. PMID: 1737072

5

Octanoate and palmitate beta-oxidation in human leukocytes: implications for the rapid diagnosis of fatty acid beta-oxidation disorders.

Wanders RJ, Ijlst L, van Elk E, de Klerk JB, Przyrembel H. Wanders RJ, et al. Among authors: ijlst l. J Inherit Metab Dis. 1991;14(3):317-20. doi: 10.1007/BF01811692. J Inherit Metab Dis. 1991. PMID: 1770782 No abstract available.

6

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.

Ijlst L, Uskikubo S, Kamijo T, Hashimoto T, Ruiter JP, de Klerk JB, Wanders RJ. Ijlst L, et al. J Inherit Metab Dis. 1995;18(2):241-4. doi: 10.1007/BF00711778. J Inherit Metab Dis. 1995. PMID: 7564258 No abstract available.

7

A simple, straightforward assay for long-chain 3-hydroxyacyl-CoA dehydrogenase based on the use of N-ethylmaleimide: potential for pre- and postnatal diagnosis.

Ijlst L, Wanders RJ. Ijlst L, et al. J Inherit Metab Dis. 1993;16(3):568-70. doi: 10.1007/BF00711683. J Inherit Metab Dis. 1993. PMID: 7609454 Clinical Trial. No abstract available.

8

Inhibition of oxidative phosphorylation by palmitoyl-CoA in digitonin permeabilized fibroblasts: implications for long-chain fatty acid beta-oxidation disorders.

Ventura FV, Ruiter JP, Ijlst L, Almeida IT, Wanders RJ. Ventura FV, et al. Among authors: ijlst l. Biochim Biophys Acta. 1995 Aug 15;1272(1):14-20. doi: 10.1016/0925-4439(95)00064-b. Biochim Biophys Acta. 1995. PMID: 7662716 Free article.

9

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.

IJlst L, Wanders RJ, Ushikubo S, Kamijo T, Hashimoto T. IJlst L, et al. Biochim Biophys Acta. 1994 Dec 8;1215(3):347-50. doi: 10.1016/0005-2760(94)90064-7. Biochim Biophys Acta. 1994. PMID: 7811722

10

beta-Oxidation enzymes in fibroblasts from patients with 3-hydroxydicarboxylic aciduria.

Venizelos N, Ijlst L, Wanders RJ, Hagenfeldt L. Venizelos N, et al. Among authors: ijlst l. Pediatr Res. 1994 Jul;36(1 Pt 1):111-4. doi: 10.1203/00006450-199407001-00020. Pediatr Res. 1994. PMID: 7936829 Clinical Trial.

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