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

175 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis.
Kuijpers TW, Maianski NA, Tool AT, Becker K, Plecko B, Valianpour F, Wanders RJ, Pereira R, Van Hove J, Verhoeven AJ, Roos D, Baas F, Barth PG. Kuijpers TW, et al. Among authors: van hove j. Blood. 2004 May 15;103(10):3915-23. doi: 10.1182/blood-2003-11-3940. Epub 2004 Feb 5. Blood. 2004. PMID: 14764526 Free article.
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: van hove j, van der lee jh. 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.
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.
van Karnebeek CD, Stockler-Ipsiroglu S, Jaggumantri S, Assmann B, Baxter P, Buhas D, Bok LA, Cheng B, Coughlin CR 2nd, Das AM, Giezen A, Al-Hertani W, Ho G, Meyer U, Mills P, Plecko B, Struys E, Ueda K, Albersen M, Verhoeven N, Gospe SM Jr, Gallagher RC, Van Hove JK, Hartmann H. van Karnebeek CD, et al. JIMD Rep. 2014;15:1-11. doi: 10.1007/8904_2014_296. Epub 2014 Apr 19. JIMD Rep. 2014. PMID: 24748525 Free PMC article.
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Larson AA, Balasubramaniam S, Christodoulou J, Burrage LC, Marom R, Graham BH, Diaz GA, Glamuzina E, Hauser N, Heese B, Horvath G, Mattman A, van Karnebeek C, Lane Rutledge S, Williamson A, Estrella L, Van Hove JKL, Weisfeld-Adams JD. Larson AA, et al. Among authors: van karnebeek c, van hove jkl. Mitochondrion. 2019 Jan;44:58-64. doi: 10.1016/j.mito.2018.01.001. Epub 2018 Jan 4. Mitochondrion. 2019. PMID: 29307858 Free PMC article.
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.
Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R; Mitochondrial Medicine Society Clinical Directors Working Group; MMS Clinical Director's Work Group; Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA. Parikh S, et al. Among authors: van hove j. Mitochondrion. 2014 Jan;14(1):26-33. doi: 10.1016/j.mito.2013.07.116. Epub 2013 Jul 26. Mitochondrion. 2014. PMID: 23891656
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
Kurt B, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, Copeland WC, DiMauro S. Kurt B, et al. Among authors: van goethem g, van hove j. Arch Neurol. 2010 Feb;67(2):239-44. doi: 10.1001/archneurol.2009.332. Arch Neurol. 2010. PMID: 20142534 Free PMC article.
Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.
Swanson MA, Jiang H, Busquet N, Carlsen J, Brindley C, Benke TA, Van Hove RA, Friederich MW, MacLean KN, Mesches MH, Van Hove JLK. Swanson MA, et al. Among authors: van hove jlk. bioRxiv [Preprint]. 2024 Mar 29:2024.03.26.586818. doi: 10.1101/2024.03.26.586818. bioRxiv. 2024. PMID: 38586005 Free PMC article. Preprint.
Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases.
Van Hove JLK, Friederich MW, Strode DK, Van Hove RA, Miller KR, Sharma R, Shah H, Estrella J, Gabel L, Horslen S, Kohli R, Lovell MA, Miethke AG, Molleston JP, Romero R, Squires JE, Alonso EM, Guthery SL, Kamath BM, Loomes KM, Rosenthal P, Mysore KR, Cavallo LA, Valentino PL, Magee JC, Sundaram SS, Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN). Van Hove JLK, et al. Hepatol Commun. 2024 Jan 5;8(1):e0361. doi: 10.1097/HC9.0000000000000361. eCollection 2024 Jan 1. Hepatol Commun. 2024. PMID: 38180987 Free PMC article.
175 results