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

88 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.
Rymen D, Lindhout M, Spanou M, Ashrafzadeh F, Benkel I, Betzler C, Coubes C, Hartmann H, Kaplan JD, Ballhausen D, Koch J, Lotte J, Mohammadi MH, Rohrbach M, Dinopoulos A, Wermuth M, Willis D, Brugger K, Wevers RA, Boltshauser E, Bierau J, Mayr JA, Wortmann SB. Rymen D, et al. Among authors: bierau j. Genet Med. 2020 Oct;22(10):1589-1597. doi: 10.1038/s41436-020-0933-z. Epub 2020 Aug 21. Genet Med. 2020. PMID: 32820246 Free article.
The unfolding clinical spectrum of POLG mutations.
Blok MJ, van den Bosch BJ, Jongen E, Hendrickx A, de Die-Smulders CE, Hoogendijk JE, Brusse E, de Visser M, Poll-The BT, Bierau J, de Coo IF, Smeets HJ. Blok MJ, et al. Among authors: bierau j. J Med Genet. 2009 Nov;46(11):776-85. doi: 10.1136/jmg.2009.067686. Epub 2009 Jul 2. J Med Genet. 2009. PMID: 19578034
CAD mutations and uridine-responsive epileptic encephalopathy.
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB. Koch J, et al. Among authors: bierau j. Brain. 2017 Feb;140(2):279-286. doi: 10.1093/brain/aww300. Epub 2016 Dec 21. Brain. 2017. PMID: 28007989
Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism.
Körver-Keularts IMLW, Wang P, Waterval HWAH, Kluijtmans LAJ, Wevers RA, Langhans CD, Scott C, Habets DDJ, Bierau J. Körver-Keularts IMLW, et al. Among authors: bierau j. J Inherit Metab Dis. 2018 May;41(3):415-424. doi: 10.1007/s10545-017-0129-0. Epub 2018 Feb 12. J Inherit Metab Dis. 2018. PMID: 29435781 Free PMC article.
88 results