Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

493 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Disorders of carnitine transport and the carnitine cycle.
Longo N, Amat di San Filippo C, Pasquali M. Longo N, et al. Among authors: pasquali m. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):77-85. doi: 10.1002/ajmg.c.30087. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602102 Free PMC article. Review.
Disorders of creatine transport and metabolism.
Longo N, Ardon O, Vanzo R, Schwartz E, Pasquali M. Longo N, et al. Among authors: pasquali m. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):72-8. doi: 10.1002/ajmg.c.30292. Epub 2011 Feb 9. Am J Med Genet C Semin Med Genet. 2011. PMID: 21308988
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.
Genotype-phenotype correlation in primary carnitine deficiency.
Rose EC, di San Filippo CA, Ndukwe Erlingsson UC, Ardon O, Pasquali M, Longo N. Rose EC, et al. Among authors: pasquali m. Hum Mutat. 2012 Jan;33(1):118-23. doi: 10.1002/humu.21607. Epub 2011 Oct 11. Hum Mutat. 2012. PMID: 21922592 Free PMC article.
Carnitine transport and fatty acid oxidation.
Longo N, Frigeni M, Pasquali M. Longo N, et al. Among authors: pasquali m. Biochim Biophys Acta. 2016 Oct;1863(10):2422-35. doi: 10.1016/j.bbamcr.2016.01.023. Epub 2016 Jan 29. Biochim Biophys Acta. 2016. PMID: 26828774 Free PMC article. Review.
Functional and molecular studies in primary carnitine deficiency.
Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, Longo N. Frigeni M, et al. Among authors: pasquali m. Hum Mutat. 2017 Dec;38(12):1684-1699. doi: 10.1002/humu.23315. Epub 2017 Sep 14. Hum Mutat. 2017. PMID: 28841266 Free PMC article.
Biochemical findings in common inborn errors of metabolism.
Pasquali M, Monsen G, Richardson L, Alston M, Longo N. Pasquali M, et al. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):64-76. doi: 10.1002/ajmg.c.30086. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602099 Review.
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.
493 results