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Items: 1 to 50 of 265

1.

Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.

Friederich MW, Perez FA, Knight KM, Van Hove RA, Yang SP, Saneto RP, Van Hove JLK.

Mol Genet Metab. 2019 Dec 30. pii: S1096-7192(19)30567-0. doi: 10.1016/j.ymgme.2019.12.013. [Epub ahead of print]

PMID:
31917109
2.

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.

van Rijt WJ, Jager EA, Allersma DP, Aktuğlu Zeybek AÇ, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Bürgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ.

Genet Med. 2020 Jan 6. doi: 10.1038/s41436-019-0739-z. [Epub ahead of print]

PMID:
31904027
3.

Evaluation of computed tomography myocardial perfusion in women with angina and no obstructive coronary artery disease.

Bechsgaard DF, Gustafsson I, Michelsen MM, Mygind ND, Raft KF, Linde JJ, Kofoed KF, Lin FY, Min JK, Prescott E, Hove JD.

Int J Cardiovasc Imaging. 2019 Nov 1. doi: 10.1007/s10554-019-01723-5. [Epub ahead of print]

PMID:
31676944
4.

Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency.

Shelkowitz E, Ficicioglu C, Stence N, Van Hove J, Larson A.

J Child Neurol. 2020 Feb;35(2):137-145. doi: 10.1177/0883073819881940. Epub 2019 Oct 31.

PMID:
31665995
5.

Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions.

Gilani A, Hove JLV, Thomas JA, Kleinschmidt-DeMasters BK.

Pediatr Dev Pathol. 2019 Sep 22:1093526619876448. doi: 10.1177/1093526619876448. [Epub ahead of print]

PMID:
31542992
6.

The effects of a cash transfer intervention on sexual partnerships and HIV in the HPTN 068 study in South Africa.

Stoner MCD, Kilburn K, Hill LM, MacPhail C, Selin A, Kimaru L, Khoza N, Hove J, Twine R, Kahn K, Pettifor A.

Cult Health Sex. 2019 Sep 9:1-16. doi: 10.1080/13691058.2019.1655591. [Epub ahead of print]

PMID:
31496383
7.

Women with coronary microvascular dysfunction and no obstructive coronary artery disease have reduced exercise capacity.

Bechsgaard DF, Hove JD, Suhrs HE, Bové KB, Shahriari P, Gustafsson I, Prescott E.

Int J Cardiol. 2019 Oct 15;293:1-9. doi: 10.1016/j.ijcard.2019.07.048. Epub 2019 Jul 17.

PMID:
31345648
8.

'Water is life': developing community participation for clean water in rural South Africa.

Hove J, D'Ambruoso L, Mabetha D, van der Merwe M, Byass P, Kahn K, Khosa S, Witter S, Twine R.

BMJ Glob Health. 2019 Jun 11;4(3):e001377. doi: 10.1136/bmjgh-2018-001377. eCollection 2019.

9.

Cardiac dysfunction in cirrhosis: a 2-yr longitudinal follow-up study using advanced cardiac imaging.

Wiese S, Hove JD, Mo S, Mygind ND, Tønnesen J, Petersen CL, Clemmesen JO, Goetze JP, Bendtsen F, Møller S.

Am J Physiol Gastrointest Liver Physiol. 2019 Sep 1;317(3):G253-G263. doi: 10.1152/ajpgi.00402.2018. Epub 2019 Jun 19.

PMID:
31216181
10.

Patellar tendon stress between two variations of the forward step lunge.

Zellmer M, Kernozek TW, Gheidi N, Hove J, Torry M.

J Sport Health Sci. 2019 May;8(3):235-241. doi: 10.1016/j.jshs.2016.12.005. Epub 2017 Jan 19.

11.

Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease.

Newell C, Khan A, Sinasac D, Shoffner J, Friederich MW, Van Hove JLK, Hume S, Shearer J, Sosova I.

Neurol Genet. 2019 May 1;5(3):e336. doi: 10.1212/NXG.0000000000000336. eCollection 2019 Jun.

12.

COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective.

Nau S, McCourt EA, Maloney JA, Van Hove JL, Saenz M, Jung JL.

J AAPOS. 2019 Aug;23(4):246-248. doi: 10.1016/j.jaapos.2019.04.003. Epub 2019 May 22.

PMID:
31128271
13.

Nonketotic Hyperglycinemia.

Van Hove JLK, Coughlin C II, Swanson M, Hennermann JB.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2002 Nov 14 [updated 2019 May 23].

14.

Coronary plaque composition assessed by cardiac computed tomography using adaptive Hounsfield unit thresholds.

de Knegt MC, Haugen M, Jensen AK, Linde JJ, Kühl JT, Hove JD, Kofoed KF.

Clin Imaging. 2019 Sep - Oct;57:7-14. doi: 10.1016/j.clinimag.2019.04.014. Epub 2019 Apr 25.

PMID:
31078917
15.

Incorporating Voluntary Medical Male Circumcision Into Traditional Circumcision Contexts: Experiences of a Local Consortium in Zimbabwe Collaborating With an Ethnic Group.

Hove J, Masimba L, Murenje V, Nyadundu S, Musayerenge B, Xaba S, Nachipo B, Chitimbire V, Makunike B, Holec M, Chinyoka T, Mandisarisa J, Balachandra S, Tshimanga M, Barnhart S, Feldacker C.

Glob Health Sci Pract. 2019 Mar 29;7(1):138-146. doi: 10.9745/GHSP-D-18-00352. Print 2019 Mar 22.

16.

Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.

Van Hove JLK, Freehauf CL, Ficicioglu C, Pena LDM, Moreau KL, Henthorn TK, Christians U, Jiang H, Cowan TM, Young SP, Hite M, Friederich MW, Stabler SP, Spector EB, Kronquist KE, Thomas JA, Emmett P, Harrington MJ, Pyle L, Creadon-Swindell G, Wempe MF, MacLean KN.

J Inherit Metab Dis. 2019 May;42(3):424-437. doi: 10.1002/jimd.12085. Epub 2019 Apr 11.

PMID:
30873612
17.

An update on cirrhotic cardiomyopathy.

Møller S, Danielsen KV, Wiese S, Hove JD, Bendtsen F.

Expert Rev Gastroenterol Hepatol. 2019 May;13(5):497-505. doi: 10.1080/17474124.2019.1587293. Epub 2019 Mar 8. Review.

PMID:
30802157
18.

Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype.

Stence NV, Fenton LZ, Levek C, Tong S, Coughlin CR 2nd, Hennermann JB, Wortmann SB, Van Hove JLK.

J Inherit Metab Dis. 2019 May;42(3):438-450. doi: 10.1002/jimd.12072. Epub 2019 Mar 20.

PMID:
30737808
19.

HIV self-testing: South African young adults' recommendations for ease of use, test kit contents, accessibility, and supportive resources.

Ritchwood TD, Selin A, Pettifor A, Lippman SA, Gilmore H, Kimaru L, Hove J, Wagner R, Twine R, Kahn K.

BMC Public Health. 2019 Jan 29;19(1):123. doi: 10.1186/s12889-019-6402-4.

20.

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.

Wempe MF, Kumar A, Kumar V, Choi YJ, Swanson MA, Friederich MW, Hyland K, Yue WW, Van Hove JLK, Coughlin CR 2nd.

J Inherit Metab Dis. 2019 May;42(3):565-574. doi: 10.1002/jimd.12059. Epub 2019 Mar 11.

PMID:
30663059
21.

Automated oxygen control with O2matic® during admission with exacerbation of COPD.

Hansen EF, Hove JD, Bech CS, Jensen JS, Kallemose T, Vestbo J.

Int J Chron Obstruct Pulmon Dis. 2018 Dec 14;13:3997-4003. doi: 10.2147/COPD.S183762. eCollection 2018.

22.

Reproducibility of quantitative coronary computed tomography angiography in asymptomatic individuals and patients with acute chest pain.

de Knegt MC, Haugen M, Linde JJ, Kühl JT, Nordestgaard BG, Køber LV, Hove JD, Kofoed KF.

PLoS One. 2018 Dec 14;13(12):e0207980. doi: 10.1371/journal.pone.0207980. eCollection 2018.

23.

Manipulating and monitoring nanoparticles in micellar thin film superstructures.

Ten Hove JB, van Leeuwen FWB, Velders AH.

Nat Commun. 2018 Dec 6;9(1):5207. doi: 10.1038/s41467-018-07568-1.

24.

No Association Between Pseudopolyps and Colorectal Neoplasia in Patients With Inflammatory Bowel Diseases.

Mahmoud R, Shah SC, Ten Hove JR, Torres J, Mooiweer E, Castaneda D, Glass J, Elman J, Kumar A, Axelrad J, Ullman T, Colombel JF, Oldenburg B, Itzkowitz SH; Dutch Initiative on Crohn and Colitis.

Gastroenterology. 2019 Apr;156(5):1333-1344.e3. doi: 10.1053/j.gastro.2018.11.067. Epub 2018 Dec 7.

PMID:
30529584
25.

Men's perspectives on the impact of female-directed cash transfers on gender relations: Findings from the HPTN 068 qualitative study.

Khoza MN, Delany-Moretlwe S, Scorgie F, Hove J, Selin A, Imrie J, Twine R, Kahn K, Pettifor A, MacPhail C.

PLoS One. 2018 Nov 26;13(11):e0207654. doi: 10.1371/journal.pone.0207654. eCollection 2018.

26.

Size-controlled and water-soluble gold nanoparticles using UV-induced ligand exchange and phase transfer.

Ten Hove JB, Schijven LMI, Wang J, Velders AH.

Chem Commun (Camb). 2018 Nov 27;54(95):13355-13358. doi: 10.1039/c8cc05899g.

PMID:
30417898
27.

Statin Exposure Is Not Associated with Reduced Prevalence of Colorectal Neoplasia in Patients with Inflammatory Bowel Disease.

Shah SC, Glass J, Giustino G, Hove JRT, Castaneda D, Torres J, Kumar A, Elman J, Ullman TA, Itzkowitz SH.

Gut Liver. 2019 Jan 15;13(1):54-61. doi: 10.5009/gnl18178.

28.

Cyclodextrin-based complex coacervate core micelles with tuneable supramolecular host-guest, metal-to-ligand and charge interactions.

Facciotti C, Saggiomo V, Bunschoten A, Fokkink R, Hove JBT, Wang J, Velders AH.

Soft Matter. 2018 Dec 5;14(47):9542-9549. doi: 10.1039/c8sm01504j.

PMID:
30357241
29.

A Patient With EGFR-Mutated Lung Cancer Progressing on Erlotinib: Evaluating for a T790M Mutation With Limited Tissue.

Wynja E, Hove J, Powell SF.

Oncology (Williston Park). 2018 Oct 15;32(10):499-500, 504. No abstract available.

30.

Relationship between patient presentation and morphology of coronary atherosclerosis by quantitative multidetector computed tomography.

de Knegt MC, Linde JJ, Fuchs A, Pham MHC, Jensen AK, Nordestgaard BG, Kelbæk H, Køber LV, Heitmann M, Fornitz G, Hove JD, Kofoed KF; CGPS, the CATCH, and the VERDICT Investigators .

Eur Heart J Cardiovasc Imaging. 2019 Nov 1;20(11):1221-1230. doi: 10.1093/ehjci/jey146.

PMID:
30325406
31.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK.

Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w.

32.

Myocardial perfusion assessed with cardiac computed tomography in women without coronary heart disease.

Bechsgaard DF, Gustafsson I, Linde JJ, Kofoed KF, Prescott E, Hove JD.

Clin Physiol Funct Imaging. 2019 Jan;39(1):65-77. doi: 10.1111/cpf.12542. Epub 2018 Sep 30.

PMID:
30270499
33.

Nanoparticles reveal Extreme Size-Sorting and Morphologies in Complex Coacervate Superstructures.

Ten Hove JB, van Oosterom MN, van Leeuwen FWB, Velders AH.

Sci Rep. 2018 Sep 14;8(1):13820. doi: 10.1038/s41598-018-32240-5.

34.

Malignant and Nonmalignant Complications of the Rectal Stump in Patients with Inflammatory Bowel Disease.

Ten Hove JR, Bogaerts JMK, Bak MTJ, Laclé MM, Meij V, Derikx LAAP, Hoentjen F, Mahmmod N, van Tuyl SA, Oldenburg B.

Inflamm Bowel Dis. 2019 Jan 10;25(2):377-384. doi: 10.1093/ibd/izy253.

PMID:
30085111
35.

The concept of resilience in childhood disability: Does the International Classification of Functioning, Disability and Health help us?

Ten Hove J, Rosenbaum P.

Child Care Health Dev. 2018 Sep;44(5):730-735. doi: 10.1111/cch.12590. Epub 2018 Jul 24. Review.

PMID:
30043499
36.

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.

Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK.

J Inherit Metab Dis. 2019 Mar;42(2):353-361. doi: 10.1002/jimd.12045. Epub 2019 Feb 22.

PMID:
30043187
37.

Sample size of surgical randomized controlled trials: a lack of improvement over time.

Ahmed Ali U, Ten Hove JR, Reiber BM, van der Sluis PC, Besselink MG.

J Surg Res. 2018 Aug;228:1-7. doi: 10.1016/j.jss.2018.02.014. Epub 2018 Mar 21.

PMID:
29907196
38.

In memoriam.

Van Hove JLK, Thomas JA, Baker PR 2nd, Larson AA.

J Inherit Metab Dis. 2018 May 7. doi: 10.1007/s10545-018-0191-2. [Epub ahead of print] No abstract available.

PMID:
29736632
39.

Consecutive negative findings on colonoscopy during surveillance predict a low risk of advanced neoplasia in patients with inflammatory bowel disease with long-standing colitis: results of a 15-year multicentre, multinational cohort study.

Ten Hove JR, Shah SC, Shaffer SR, Bernstein CN, Castaneda D, Palmela C, Mooiweer E, Elman J, Kumar A, Glass J, Axelrad J, Ullman TA, Colombel JF, Torres J, van Bodegraven AA, Hoentjen F, Jansen JM, de Jong ME, Mahmmod N, van der Meulen-de Jong AE, Ponsioen CY, van der Woude CJ, Itzkowitz SH, Oldenburg B.

Gut. 2019 Apr;68(4):615-622. doi: 10.1136/gutjnl-2017-315440. Epub 2018 May 2.

PMID:
29720408
40.

Myocardial extracellular volume quantified by magnetic resonance is increased in cirrhosis and related to poor outcome.

Wiese S, Hove J, Mo S, Mookerjee RP, Petersen CL, Vester-Andersen MK, Mygind ND, Goetze JP, Kjaer A, Bendtsen F, Møller S.

Liver Int. 2018 Sep;38(9):1614-1623. doi: 10.1111/liv.13870. Epub 2018 May 21.

PMID:
29714035
41.

COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.

Starr MC, Chang IJ, Finn LS, Sun A, Larson AA, Goebel J, Hanevold C, Thies J, Van Hove JLK, Hingorani SR, Lam C.

Pediatr Nephrol. 2018 Jul;33(7):1257-1261. doi: 10.1007/s00467-018-3937-z. Epub 2018 Apr 10.

42.

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

Vögtle FN, Brändl B, Larson A, Pendziwiat M, Friederich MW, White SM, Basinger A, Kücükköse C, Muhle H, Jähn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, Burger N, Miyake N, Burnett A, van Baalen A, Lovell MA, Matsumoto N, Walsh M, Yu HC, Shinde DN, Stephani U, Van Hove JLK, Müller FJ, Helbig I.

Am J Hum Genet. 2018 Apr 5;102(4):557-573. doi: 10.1016/j.ajhg.2018.02.014. Epub 2018 Mar 22.

43.

Pronounced Coronary Arteriosclerosis in Cirrhosis: Influence on Cardiac Function and Survival?

Danielsen KV, Wiese S, Hove J, Bendtsen F, Møller S.

Dig Dis Sci. 2018 May;63(5):1355-1362. doi: 10.1007/s10620-018-5006-7. Epub 2018 Mar 8.

PMID:
29516327
44.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM; Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT.

Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22.

45.

High Risk of Advanced Colorectal Neoplasia in Patients With Primary Sclerosing Cholangitis Associated With Inflammatory Bowel Disease.

Shah SC, Ten Hove JR, Castaneda D, Palmela C, Mooiweer E, Colombel JF, Harpaz N, Ullman TA, van Bodegraven AA, Jansen JM, Mahmmod N, van der Meulen-de Jong AE, Ponsioen CY, van der Woude CJ, Oldenburg B, Itzkowitz SH, Torres J.

Clin Gastroenterol Hepatol. 2018 Jul;16(7):1106-1113.e3. doi: 10.1016/j.cgh.2018.01.023. Epub 2018 Mar 15.

PMID:
29378311
46.

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.

Mitochondrion. 2019 Jan;44:58-64. doi: 10.1016/j.mito.2018.01.001. Epub 2018 Jan 4.

PMID:
29307858
47.

Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JLK.

Genet Med. 2018 Sep;20(9):1098. doi: 10.1038/gim.2017.232.

PMID:
29300369
48.

Value of Myocardial Perfusion Assessment With Coronary Computed Tomography Angiography in Patients With Recent Acute-Onset Chest Pain.

Sørgaard MH, Linde JJ, Kühl JT, Kelbæk H, Hove JD, Fornitz GG, Jørgensen TBS, Heitmann M, Kragelund C, Hansen TF, Abdulla J, Engstrøm T, Jensen JS, Wiegandt YT, Høfsten DE, Køber LV, Kofoed KF.

JACC Cardiovasc Imaging. 2018 Nov;11(11):1611-1621. doi: 10.1016/j.jcmg.2017.09.022. Epub 2017 Dec 13.

49.

Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene.

Coughlin CR 2nd, Swanson MA, Spector EB, Kronquist KE, Van Hove JLK.

Pediatr Neurol. 2018 Feb;79:e1. doi: 10.1016/j.pediatrneurol.2017.09.014. Epub 2017 Sep 28. No abstract available.

PMID:
29239742
50.

Total bile acid levels are associated with left atrial volume and cardiac output in patients with cirrhosis.

Voiosu AM, Wiese S, Voiosu TA, Hove J, Bendtsen F, Møller S.

Eur J Gastroenterol Hepatol. 2018 Apr;30(4):392-397. doi: 10.1097/MEG.0000000000001043.

PMID:
29227330

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