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

102 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
Engel K, Vuissoz JM, Eggimann S, Groux M, Berning C, Hu L, Klaus V, Moeslinger D, Mercimek-Mahmutoglu S, Stöckler S, Wermuth B, Häberle J, Nuoffer JM. Engel K, et al. Among authors: stockler s. J Inherit Metab Dis. 2012 Jan;35(1):133-40. doi: 10.1007/s10545-011-9357-x. Epub 2011 Jun 11. J Inherit Metab Dis. 2012. PMID: 21667091 Free article.
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL. Stockler S, et al. Mol Genet Metab. 2011 Sep-Oct;104(1-2):48-60. doi: 10.1016/j.ymgme.2011.05.014. Epub 2011 May 24. Mol Genet Metab. 2011. PMID: 21704546 Review.
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe SM Jr, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S. van Karnebeek CD, et al. Among authors: stockler s. Mol Genet Metab. 2012 Nov;107(3):335-44. doi: 10.1016/j.ymgme.2012.09.006. Epub 2012 Sep 10. Mol Genet Metab. 2012. PMID: 23022070 Free article.
Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.
Khangura SD, Tingley K, Chakraborty P, Coyle D, Kronick JB, Laberge AM, Little J, Miller FA, Mitchell JJ, Prasad C, Siddiq S, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Trakadis Y, Wilson BJ, Wilson K, Potter BK; Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Khangura SD, et al. Among authors: stockler s. J Inherit Metab Dis. 2016 Jan;39(1):139-47. doi: 10.1007/s10545-015-9881-1. Epub 2015 Jul 25. J Inherit Metab Dis. 2016. PMID: 26209272 Free PMC article.
102 results