Pasquali M - Search Results

1

Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.

Rovelli V, Manzoni F, Viau K, Pasquali M, Longo N. Rovelli V, et al. Among authors: pasquali m. Mol Genet Metab. 2019 May;127(1):64-73. doi: 10.1016/j.ymgme.2019.04.001. Epub 2019 Apr 16. Mol Genet Metab. 2019. PMID: 31031081

2

Glutaric acidemia type 1: outcomes before and after expanded newborn screening.

Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N. Viau K, et al. Among authors: pasquali m. Mol Genet Metab. 2012 Aug;106(4):430-8. doi: 10.1016/j.ymgme.2012.05.024. Epub 2012 Jun 9. Mol Genet Metab. 2012. PMID: 22728054

3

Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency.

Viau KS, Ernst SL, Pasquali M, Botto LD, Hedlund G, Longo N. Viau KS, et al. Among authors: pasquali m. Mol Genet Metab. 2013 Nov;110(3):255-62. doi: 10.1016/j.ymgme.2013.08.020. Epub 2013 Sep 8. Mol Genet Metab. 2013. PMID: 24071436

4

Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.

De Biase I, Viau KS, Liu A, Yuzyuk T, Botto LD, Pasquali M, Longo N. De Biase I, et al. Among authors: pasquali m. JIMD Rep. 2017;31:63-71. doi: 10.1007/8904_2016_558. Epub 2016 Apr 28. JIMD Rep. 2017. PMID: 27117294 Free PMC article.

5

Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy.

Yuzyuk T, Thomas A, Viau K, Liu A, De Biase I, Botto LD, Pasquali M, Longo N. Yuzyuk T, et al. Among authors: pasquali m. Mol Genet Metab. 2016 Jul;118(3):167-172. doi: 10.1016/j.ymgme.2016.04.015. Epub 2016 May 8. Mol Genet Metab. 2016. PMID: 27324284

6

Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.

Anderson DR, Viau K, Botto LD, Pasquali M, Longo N. Anderson DR, et al. Among authors: pasquali m. Mol Genet Metab. 2020 Jan;129(1):13-19. doi: 10.1016/j.ymgme.2019.11.006. Epub 2019 Nov 25. Mol Genet Metab. 2020. PMID: 31836396

7

Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.

Manzoni F, Salvatici E, Burlina A, Andrews A, Pasquali M, Longo N. Manzoni F, et al. Among authors: pasquali m. Mol Genet Metab. 2020 Dec;131(4):380-389. doi: 10.1016/j.ymgme.2020.11.004. Epub 2020 Nov 18. Mol Genet Metab. 2020. PMID: 33234470 Free PMC article.

8

Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.

Hart K, Rohrwasser A, Wallis H, Golsan H, Shao J, Anderson T, Wang X, Szabo-Fresnais N, Morrissey M, Kay DM, Wojcik M, Galvin-Parton PA, Longo N, Caggana M, Pasquali M. Hart K, et al. Among authors: pasquali m. Mol Genet Metab. 2021 Sep-Oct;134(1-2):60-64. doi: 10.1016/j.ymgme.2021.07.012. Epub 2021 Jul 29. Mol Genet Metab. 2021. PMID: 34389248

9

Metabolic changes associated with hyperammonemia in patients with propionic acidemia.

Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N. Filipowicz HR, et al. Among authors: pasquali m. Mol Genet Metab. 2006 Jun;88(2):123-30. doi: 10.1016/j.ymgme.2005.11.016. Epub 2006 Jan 10. Mol Genet Metab. 2006. PMID: 16406646

10

Newborn screening and inborn errors of metabolism.

Pasquali M, Longo N. Pasquali M, et al. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):1-2. doi: 10.1002/ajmg.c.30290. Epub 2011 Feb 10. Am J Med Genet C Semin Med Genet. 2011. PMID: 21337697 No abstract available.

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