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Page 1
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS. Steenweg ME, et al. Among authors: trefz fk. Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Hum Mutat. 2010. PMID: 20052767 Review.
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J, Christensen E, de Kremer RD, Errami A, Gissen P, Gradowska W, Hobson E, Islam L, Korman SH, Kurczynski T, Maranda B, Meli C, Rizzo C, Sansaricq C, Trefz FK, Webster R, Jakobs C, Salomons GS. Kranendijk M, et al. Among authors: trefz fk. Hum Mutat. 2010 Mar;31(3):279-83. doi: 10.1002/humu.21186. Hum Mutat. 2010. PMID: 20020533
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodés M, Wasant P, Yoshida I, De Meirleir L, Abdul Jalil M, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T. Gao HZ, et al. Among authors: trefz fk. Hum Mutat. 2003 Jul;22(1):24-34. doi: 10.1002/humu.10230. Hum Mutat. 2003. PMID: 12815590
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease.
Barth PG, Hoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, Duran M, Valk J, Schutgens RB, Trefz FK, et al. Barth PG, et al. Among authors: trefz fk. Ann Neurol. 1992 Jul;32(1):66-71. doi: 10.1002/ana.410320111. Ann Neurol. 1992. PMID: 1642474
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: trefz fk. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B. Huemer M, et al. J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30. J Inherit Metab Dis. 2016. PMID: 26025547 Free PMC article.
[Pre- and postnatal diagnosis of organoacidopathies].
Hoffmann GF, Jakobs C, Rating D, Sweetman L, Trefz FK. Hoffmann GF, et al. Among authors: trefz fk. Monatsschr Kinderheilkd. 1990 Jul;138(7):381-8. Monatsschr Kinderheilkd. 1990. PMID: 2204822 Review. German.
Haplotype distribution and mutations at the PAH locus in Croatia.
Barić I, Mardesić D, Gjurić G, Sarnavka V, Göbel-Schreiner B, Lichter-Konecki U, Konecki DS, Trefz FK. Barić I, et al. Among authors: trefz fk. Hum Genet. 1992 Sep-Oct;90(1-2):155-7. doi: 10.1007/BF00210763. Hum Genet. 1992. PMID: 1358784
150 results