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Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Clin Genet. 2023 Jun;103(6):644-654. doi: 10.1111/cge.14316. Epub 2023 Mar 13.
Clin Genet. 2023.
PMID: 36840705
Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency.
Lotz-Havla AS, Weiß K, Schiergens K, Regenauer-Vandewiele S, Parhofer KG, Christmann T, Böhm L, Havla J, Maier EM.
Lotz-Havla AS, et al. Among authors: regenauer vandewiele s.
Front Neurol. 2021 Dec 10;12:780624. doi: 10.3389/fneur.2021.780624. eCollection 2021.
Front Neurol. 2021.
PMID: 34956063
Free PMC article.
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Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.
Lotz-Havla AS, Weiß KJ, Schiergens KA, Brunet T, Kohlhase J, Regenauer-Vandewiele S, Maier EM.
Lotz-Havla AS, et al. Among authors: regenauer vandewiele s.
Orphanet J Rare Dis. 2021 May 12;16(1):215. doi: 10.1186/s13023-021-01847-9.
Orphanet J Rare Dis. 2021.
PMID: 33980297
Free PMC article.
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