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Page 1
Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
Bruun TUJ, Sidky S, Bandeira AO, Debray FG, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, Luísa D, Nassogne MC, O'Sullivan S, Õunap K, Schulze A, van Maldergem L, Salomons GS, Mercimek-Andrews S. Bruun TUJ, et al. Among authors: bandeira ao. Metab Brain Dis. 2018 Jun;33(3):875-884. doi: 10.1007/s11011-018-0197-3. Epub 2018 Feb 12. Metab Brain Dis. 2018. PMID: 29435807
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C. Huemer M, et al. J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30. J Inherit Metab Dis. 2017. PMID: 27905001 Free PMC article. Review.
TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW.
Barroso F, Correia J, Bandeira A, Carmona C, Vilarinho L, Almeida M, Rocha JC, Martins E. Barroso F, et al. Rev Paul Pediatr. 2020 Jun 5;38:e2018158. doi: 10.1590/1984-0462/2020/38/2018158. eCollection 2020. Rev Paul Pediatr. 2020. PMID: 32520295 Free PMC article. Review.
Severe Hemolytic Anemia: Atypical Presentation of Cobalamin Deficiency.
Fraga C, Losa A, Cascais I, Garrido C, Lachado A, Couto Guerra I, Bandeira A, Cleto E, Costa E. Fraga C, et al. J Pediatr Hematol Oncol. 2024 Apr 1;46(3):172-174. doi: 10.1097/MPH.0000000000002829. Epub 2024 Feb 15. J Pediatr Hematol Oncol. 2024. PMID: 38408112 Free PMC article.
29 results