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

51 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
Spenger J, Maier EM, Wechselberger K, Bauder F, Kocher M, Sperl W, Preisel M, Schiergens KA, Konstantopoulou V, Röschinger W, Häberle J, Schmitt-Mechelke T, Wortmann SB, Fingerhut R. Spenger J, et al. Among authors: konstantopoulou v. Int J Neonatal Screen. 2021 Jun 18;7(2):32. doi: 10.3390/ijns7020032. Int J Neonatal Screen. 2021. PMID: 34207159 Free PMC article.
The clinical spectrum of mitochondrial disease in 75 pediatric patients.
Skladal D, Sudmeier C, Konstantopoulou V, Stöckler-Ipsiroglu S, Plecko-Startinig B, Bernert G, Zeman J, Sperl W. Skladal D, et al. Among authors: konstantopoulou v. Clin Pediatr (Phila). 2003 Oct;42(8):703-10. doi: 10.1177/000992280304200806. Clin Pediatr (Phila). 2003. PMID: 14601919
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
Sterl E, Paul K, Paschke E, Zschocke J, Brunner-Krainz M, Windisch E, Konstantopoulou V, Möslinger D, Karall D, Scholl-Bürgi S, Sperl W, Lagler F, Plecko B. Sterl E, et al. Among authors: konstantopoulou v. J Inherit Metab Dis. 2013 Jan;36(1):7-13. doi: 10.1007/s10545-012-9485-y. Epub 2012 Apr 25. J Inherit Metab Dis. 2013. PMID: 22526846
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
Koch J, Freisinger P, Feichtinger RG, Zimmermann FA, Rauscher C, Wagentristl HP, Konstantopoulou V, Seidl R, Haack TB, Prokisch H, Ahting U, Sperl W, Mayr JA, Maier EM. Koch J, et al. Among authors: konstantopoulou v. Orphanet J Rare Dis. 2015 Apr 2;10:40. doi: 10.1186/s13023-015-0254-5. Orphanet J Rare Dis. 2015. PMID: 25887401 Free PMC article.
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).
Karall D, Brunner-Krainz M, Kogelnig K, Konstantopoulou V, Maier EM, Möslinger D, Plecko B, Sperl W, Volkmar B, Scholl-Bürgi S. Karall D, et al. Among authors: konstantopoulou v. Orphanet J Rare Dis. 2015 Feb 22;10:21. doi: 10.1186/s13023-015-0236-7. Orphanet J Rare Dis. 2015. PMID: 25888220 Free PMC article.
Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.
Unsinn C, Das A, Valayannopoulos V, Thimm E, Beblo S, Burlina A, Konstantopoulou V, Mayorandan S, de Lonlay P, Rennecke J, Derbinski J, Hoffmann GF, Häberle J. Unsinn C, et al. Among authors: konstantopoulou v. Orphanet J Rare Dis. 2016 Aug 19;11(1):116. doi: 10.1186/s13023-016-0493-0. Orphanet J Rare Dis. 2016. PMID: 27538463 Free PMC article.
Issues with European guidelines for phenylketonuria.
Burgard P, Ullrich K, Ballhausen D, Hennermann JB, Hollak CEM, Langeveld M, Karall D, Konstantopoulou V, Maier EM, Lang F, Lachmann R, Murphy E, Garbade S, Hoffmann GF, Kölker S, Lindner M, Zschocke J. Burgard P, et al. Among authors: konstantopoulou v. Lancet Diabetes Endocrinol. 2017 Sep;5(9):681-683. doi: 10.1016/S2213-8587(17)30201-2. Lancet Diabetes Endocrinol. 2017. PMID: 28842158 No abstract available.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M; individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD); Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M. Keller R, et al. Among authors: konstantopoulou v. J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034. J Inherit Metab Dis. 2019. PMID: 30740731 Free article.
51 results