Pasquali M - Search Results

1

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

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

Anaplerotic therapy in propionic acidemia.

Longo N, Price LB, Gappmaier E, Cantor NL, Ernst SL, Bailey C, Pasquali M. Longo N, et al. Among authors: pasquali m. Mol Genet Metab. 2017 Sep;122(1-2):51-59. doi: 10.1016/j.ymgme.2017.07.003. Epub 2017 Jul 12. Mol Genet Metab. 2017. PMID: 28712602 Free PMC article. Clinical Trial.

5

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

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

Glutaric acidemia type 1.

Hedlund GL, Longo N, Pasquali M. Hedlund GL, et al. Among authors: pasquali m. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):86-94. doi: 10.1002/ajmg.c.30088. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602100 Free PMC article. Review.

8

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.

9

Biochemical abnormalities in Pearson syndrome.

Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N. Crippa BL, et al. Among authors: pasquali m. Am J Med Genet A. 2015 Mar;167A(3):621-8. doi: 10.1002/ajmg.a.36939. Am J Med Genet A. 2015. PMID: 25691415

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

497 results

Search Page

Filters