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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

98 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Diagnosis of 'possible' mitochondrial disease: an existential crisis.
Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, McCormack S, McCormick EM, McFarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S. Parikh S, et al. Among authors: stockler s. J Med Genet. 2019 Mar;56(3):123-130. doi: 10.1136/jmedgenet-2018-105800. Epub 2019 Jan 25. J Med Genet. 2019. PMID: 30683676 Review.
Heparin cofactor II-thrombin complex: a biomarker of MPS disease.
Randall DR, Colobong KE, Hemmelgarn H, Sinclair GB, Hetty E, Thomas A, Bodamer OA, Volkmar B, Fernhoff PM, Casey R, Chan AK, Mitchell G, Stockler S, Melancon S, Rupar T, Clarke LA. Randall DR, et al. Among authors: stockler s. Mol Genet Metab. 2008 Aug;94(4):456-461. doi: 10.1016/j.ymgme.2008.05.001. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18511319
Morquio B disease: a case report.
Gholamian T, Chhina H, Stockler S, Cooper A. Gholamian T, et al. Among authors: stockler s. Front Pediatr. 2024 Mar 4;12:1285414. doi: 10.3389/fped.2024.1285414. eCollection 2024. Front Pediatr. 2024. PMID: 38500590 Free PMC article.
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency.
Yeganeh M, March K, Jones C, Ho G, Selby KA, Chanoine JP, Stockler S, Salvarinova R, Horvath G, Brunel-Guitton C. Yeganeh M, et al. Among authors: stockler s. Mol Genet Metab Rep. 2023 Mar 10;35:100961. doi: 10.1016/j.ymgmr.2023.100961. eCollection 2023 Jun. Mol Genet Metab Rep. 2023. PMID: 36941958 Free PMC article.
98 results