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Page 1
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Lund AM, Rizopoulos D, Kölker S, Williams M; Additional individual contributors from E-IMD. Molema F, et al. Mol Genet Metab. 2019 Apr;126(4):397-405. doi: 10.1016/j.ymgme.2019.02.003. Epub 2019 Feb 25. Mol Genet Metab. 2019. PMID: 30827756
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.
Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Barić I, Lund AM, Kölker S, Williams M; Additional individual contributors from E-IMD. Molema F, et al. J Inherit Metab Dis. 2019 Nov;42(6):1162-1175. doi: 10.1002/jimd.12066. Epub 2019 Feb 27. J Inherit Metab Dis. 2019. PMID: 30734935 Free article.
Bone disease in early detected Gaucher Type I disease: A case report.
Gragnaniello V, Burlina AP, Manara R, Cazzorla C, Rubert L, Gueraldi D, Toniolli E, Quaia E, Burlina AB. Gragnaniello V, et al. Among authors: rubert l. JIMD Rep. 2022 Jun 26;63(5):414-419. doi: 10.1002/jmd2.12314. eCollection 2022 Sep. JIMD Rep. 2022. PMID: 36101816 Free PMC article.
40 results