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

591 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
Alfardan J, Mohsen AW, Copeland S, Ellison J, Keppen-Davis L, Rohrbach M, Powell BR, Gillis J, Matern D, Kant J, Vockley J. Alfardan J, et al. Among authors: gillis j. Mol Genet Metab. 2010 Aug;100(4):333-8. doi: 10.1016/j.ymgme.2010.04.014. Epub 2010 May 23. Mol Genet Metab. 2010. PMID: 20547083 Free PMC article.
Recommendations for the use of sapropterin in phenylketonuria.
Cunningham A, Bausell H, Brown M, Chapman M, DeFouw K, Ernst S, McClure J, McCune H, O'Steen D, Pender A, Skrabal J, Wessel A, Jurecki E, Shediac R, Prasad S, Gillis J, Cederbaum S. Cunningham A, et al. Among authors: gillis j. Mol Genet Metab. 2012 Jul;106(3):269-76. doi: 10.1016/j.ymgme.2012.04.004. Epub 2012 Apr 13. Mol Genet Metab. 2012. PMID: 22575621 Free article. Clinical Trial.
A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria.
Burton B, Grant M, Feigenbaum A, Singh R, Hendren R, Siriwardena K, Phillips J 3rd, Sanchez-Valle A, Waisbren S, Gillis J, Prasad S, Merilainen M, Lang W, Zhang C, Yu S, Stahl S. Burton B, et al. Among authors: gillis j. Mol Genet Metab. 2015 Mar;114(3):415-24. doi: 10.1016/j.ymgme.2014.11.011. Epub 2014 Nov 26. Mol Genet Metab. 2015. PMID: 25533024 Free article. Clinical Trial.
591 results