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

83 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
ETHE1 mutations are specific to ethylmalonic encephalopathy.
Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM, Christensen E, Burlina A, Zeviani M. Tiranti V, et al. Among authors: jack rm. J Med Genet. 2006 Apr;43(4):340-6. doi: 10.1136/jmg.2005.036210. Epub 2005 Sep 23. J Med Genet. 2006. PMID: 16183799 Free PMC article.
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA. Bedoyan JK, et al. Among authors: jack rm. Mol Genet Metab. 2017 Apr;120(4):342-349. doi: 10.1016/j.ymgme.2017.02.002. Epub 2017 Feb 2. Mol Genet Metab. 2017. PMID: 28202214 Free PMC article. Review.
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.
Coughlin CR 2nd, van Karnebeek CD, Al-Hertani W, Shuen AY, Jaggumantri S, Jack RM, Gaughan S, Burns C, Mirsky DM, Gallagher RC, Van Hove JL. Coughlin CR 2nd, et al. Among authors: jack rm. Mol Genet Metab. 2015 Sep-Oct;116(1-2):35-43. doi: 10.1016/j.ymgme.2015.05.011. Epub 2015 May 23. Mol Genet Metab. 2015. PMID: 26026794 Review.
Ahomocysteinemia in molybdenum cofactor deficiency.
Graf WD, Oleinik OE, Jack RM, Weiss AH, Johnson JL. Graf WD, et al. Among authors: jack rm. Neurology. 1998 Sep;51(3):860-2. doi: 10.1212/wnl.51.3.860. Neurology. 1998. PMID: 9748040
83 results