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221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Mol Genet Metab. 2016 Sep;119(1-2):75-82. doi: 10.1016/j.ymgme.2016.07.002. Epub 2016 Jul 15.
Mol Genet Metab. 2016.
PMID: 27477829
Free PMC article.
Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function.
Pillai NR, Elsbecker SA, Gupta AO, Lund TC, Orchard PJ, Braunlin E.
Pillai NR, et al. Among authors: elsbecker sa.
Mol Genet Metab. 2023 Nov;140(3):107669. doi: 10.1016/j.ymgme.2023.107669. Epub 2023 Jul 27.
Mol Genet Metab. 2023.
PMID: 37542767
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The challenge of understanding and predicting phenotypic diversity in urea cycle disorders.
Posset R, Zielonka M, Gleich F, Garbade SF, Hoffmann GF, Kölker S; Urea Cycle Disorders Consortium (UCDC) and European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group.
Posset R, et al.
J Inherit Metab Dis. 2023 Nov;46(6):1007-1016. doi: 10.1002/jimd.12678. Epub 2023 Oct 10.
J Inherit Metab Dis. 2023.
PMID: 37702610
Review.
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