2015
DOI: 10.18233/apm36no1pp9-17
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Resonancia magnética nuclear de encéfalo en pacientes con fenilcetonuria diagnosticada tardíamente

Abstract: 9www.actapediatrica.org.mx artículo original Acta Pediatr Mex 2015;36:9-17. Resonancia magnética nuclear de encéfalo en pacientes con fenilcetonuria diagnosticada tardíamente RESUMEN Antecedentes: la fenilcetonuria clásica es una encefalopatía genética caracterizada por una inhabilidad de los individuos para metabolizar la fenilalanina, por lo que su concentración plasmática se eleva a niveles tóxicos. Clínicamente se manifiesta como irritabilidad, alteración del sueño, indiferencia al medio, crisis convuls… Show more

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Cited by 2 publications
(6 citation statements)
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References 28 publications
(36 reference statements)
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“…Sixty-four of the 79 included studies reported at least one patient-important outcome at individual or population level, and they are displayed in Table 1 for study characteristics. Regarding study design, 18 were case series [ 22 , 23 , 33 , 34 , 40 – 42 , 45 , 54 , 55 , 58 , 60 , 70 , 84 – 87 ], 47 cross-sectional studies [ 6 , 7 , 13 – 15 , 17 – 21 , 24 , 26 , 29 , 30 , 35 – 39 , 43 , 46 , 47 , 53 , 56 , 59 , 61 , 62 , 67 , 68 , 71 , 73 , 75 – 77 , 79 – 81 , 88 – 91 ], 13 case reports [ 34 , 44 , 48 , 51 , 63 , 64 , 69 , 74 , 84 , 87 , 92 – 94 ], and two cohort studies [ 57 , 95 ].…”
Section: Resultsmentioning
confidence: 99%
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“…Sixty-four of the 79 included studies reported at least one patient-important outcome at individual or population level, and they are displayed in Table 1 for study characteristics. Regarding study design, 18 were case series [ 22 , 23 , 33 , 34 , 40 – 42 , 45 , 54 , 55 , 58 , 60 , 70 , 84 – 87 ], 47 cross-sectional studies [ 6 , 7 , 13 – 15 , 17 – 21 , 24 , 26 , 29 , 30 , 35 – 39 , 43 , 46 , 47 , 53 , 56 , 59 , 61 , 62 , 67 , 68 , 71 , 73 , 75 – 77 , 79 – 81 , 88 – 91 ], 13 case reports [ 34 , 44 , 48 , 51 , 63 , 64 , 69 , 74 , 84 , 87 , 92 – 94 ], and two cohort studies [ 57 , 95 ].…”
Section: Resultsmentioning
confidence: 99%
“…Forty of the included studies were conducted in Brazil [ 14 , 19 – 24 , 26 , 27 , 29 , 31 , 43 , 45 , 51 , 56 , 58 , 59 , 62 , 64 , 67 , 69 – 73 , 75 – 78 , 80 , 81 , 83 , 84 , 86 , 88 , 91 , 94 , 97 , 98 ], seven in Argentina [ 15 , 17 , 18 , 33 – 38 , 46 , 47 ], five in Chile [ 39 42 , 89 ], three each in Colombia [ 48 , 54 , 74 ] and Mexico [ 55 , 85 , 93 ], two each in Ecuador [ 44 , 92 ], Venezuela [ 60 , 63 ] and Uruguay [ 32 , 90 ], and one in Cuba [ 68 ]. One study [ 87 ] was a multicenter conducted in Ecuador, Bolivia, and Paraguay.…”
Section: Resultsmentioning
confidence: 99%
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“…At least in two c. 60 + 5G > T-homozygous and lately diagnosed patients (CD group), we documented central nervous system sequelae (Figure 4), consisting of basal ganglia and white matter brain damage. Remarkably, although the male patient was diagnosed at a younger age, he showed the involvement of basal ganglia, but it is known that imaging studies of PKU patients do not always correlate with the severity of the observed phenotype [39].…”
Section: Discussionmentioning
confidence: 97%