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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. Among authors: taddeucci g. 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.
Radiological findings in a case of Menkes' disease.
Pinto F, Calderazzi A, Canapicchi R, Taddeucci G, Tarantino E. Pinto F, et al. Among authors: taddeucci g. Childs Nerv Syst. 1995 Feb;11(2):112-4. doi: 10.1007/BF00303816. Childs Nerv Syst. 1995. PMID: 7758009
Acute myelitis in a child: current hypotheses.
Taddeucci G, Bonuccelli A, Polacco P. Taddeucci G, et al. Pediatr Neurol. 2006 Dec;35(6):430-2. doi: 10.1016/j.pediatrneurol.2006.05.013. Pediatr Neurol. 2006. PMID: 17138014
Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
Valetto A, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G. Valetto A, et al. Among authors: taddeucci g. Eur J Med Genet. 2012 May;55(5):362-6. doi: 10.1016/j.ejmg.2012.03.011. Epub 2012 Apr 24. Eur J Med Genet. 2012. PMID: 22548977
[Gardner syndrome].
Tarantino E, Meozzi A, Villirillo A, Lamesa G, Taddeucci G. Tarantino E, et al. Among authors: taddeucci g. Pediatr Med Chir. 1995 Sep-Oct;17(5):473-7. Pediatr Med Chir. 1995. PMID: 8685009 Italian.
18 results