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VILARINHO, LAURA [Author]
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Rocha, Diogo Fernandes da, Vilarinho, Laura and Louro, Pedro
National newborn screening for sickle cell disease and communication of carrier status
.
Rev Port Med Geral Fam
, Feb 2023, vol.39, no.1, p.76-78. ISSN 2182-5173
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abstract in english
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Leal, Rita et al.
Primary hyperoxaluria type 1
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A literature review upon three clinical cases
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Port J Nephrol Hypert
, Dec 2014, vol.28, no.4, p.281-289. ISSN 0872-0169
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portuguese
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Carvalho, Fábia Ginja de et al.
Suspecting classical homocystinuria in an adolescent born before the newborn screening program
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Nascer e Crescer
, Mar 2021, vol.30, no.1, p.44-47. ISSN 0872-0754
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Miranda, Ana Margalha et al.
Coarse face, hypotonia, and neurodevelopmental regression
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Nascer e Crescer
, June 2020, vol.29, no.2, p.117-120. ISSN 0872-0754
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Marcão, Ana et al.
Rastreio neonatal de hemoglobinopatias
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implementação e resultados preliminares
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Nascer e Crescer
, Dez 2016, vol.25, suppl.1, p.23-23. ISSN 0872-0754
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Lopes, Lurdes et al.
Prevalência da fibrose quística em Portugal
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comparação com outros países da Europa
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Nascer e Crescer
, Dez 2016, vol.25, suppl.1, p.22-22. ISSN 0872-0754
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Ferreira, Filipa et al.
Homocistinúria clássica
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doença muito rara em Portugal com risco trombótico associado
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Nascer e Crescer
, Dez 2016, vol.25, suppl.1, p.21-21. ISSN 0872-0754
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Lopes, Lurdes et al.
Aplicação dos marcadores IRT/PAP/IRT no rastreio neonatal da fibrose quística
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Nascer e Crescer
, Fev 2015, vol.24, suppl.1, p.16-16. ISSN 0872-0754
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Lopes, Lurdes et al.
Estratégia utilizada no estudo piloto para o rastreio neonatal da fibrose quística
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Nascer e Crescer
, Mar 2014, vol.23, suppl.1, p.17-17. ISSN 0872-0754
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Nogueira, Célia et al.
Doenças da comunicação intergenómica
:
abordagem clínica e laboratorial
.
Arq Med
, Fev 2015, vol.29, no.1, p.11-19. ISSN 0871-3413
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