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Items: 5

1.

No effect of triheptanoin on exercise performance in McArdle disease.

Madsen KL, LaforĂȘt P, Buch AE, Stemmerik MG, Ottolenghi C, Hatem SN, Raaschou-Pedersen DT, Poulsen NS, Atencio M, Luton MP, Ceccaldi A, Haller RG, Quinlivan R, Mochel F, Vissing J.

Ann Clin Transl Neurol. 2019 Sep 14. doi: 10.1002/acn3.50863. [Epub ahead of print]

2.

Fat oxidation is impaired during exercise in lipin-1 deficiency.

Raaschou-Pedersen D, Madsen KL, Stemmerik MG, Eisum AV, Straub V, Vissing J.

Neurology. 2019 Sep 6. pii: 10.1212/WNL.0000000000008240. doi: 10.1212/WNL.0000000000008240. [Epub ahead of print]

PMID:
31492716
3.

Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency.

Madsen KL, Preisler N, Buch AE, Stemmerik MG, LaforĂȘt P, Vissing J.

JIMD Rep. 2019 Mar 14;46(1):79-84. doi: 10.1002/jmd2.12024. eCollection 2019 Mar.

4.

Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose.

Madsen KL, Stemmerik MG, Buch AE, Poulsen NS, Lund AM, Vissing J.

J Clin Endocrinol Metab. 2019 Sep 1;104(9):3610-3613. doi: 10.1210/jc.2019-00453.

PMID:
30990523
5.

Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency.

Stemmerik MG, Madsen KL, LaforĂȘt P, Buch AE, Vissing J.

Neurology. 2017 Dec 12;89(24):2491-2494. doi: 10.1212/WNL.0000000000004752. Epub 2017 Nov 15.

PMID:
29142088

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