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MARTINS, ANA MARIA [Author]
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Oliveira, Allan Chiaratti de et al.
Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause
.
Sao Paulo Med. J.
, Sept 2001, vol.119, no.5, p.160-164. ISSN 1516-3180
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Martins, Ana Maria.
Inborn errors of metabolism
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a clinical overview
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Sao Paulo Med. J.
, Nov 1999, vol.117, no.6, p.251-265. ISSN 1516-3180
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Giugliani, Roberto et al.
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI
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recomendações de um grupo de especialistas brasileiros
.
Rev. Assoc. Med. Bras.
, 2010, vol.56, no.3, p.271-277. ISSN 0104-4230
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Savegnago, Alana Karla et al.
Revisão sistemática das escalas utilizadas para avaliação funcional na doença de Pompe
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Rev. paul. pediatr.
, Jun 2012, vol.30, no.2, p.272-277. ISSN 0103-0582
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Giugliani, Roberto et al.
Mucopolysaccharidosis I, II, and VI
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brief review and guidelines for treatment
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Genet. Mol. Biol.
, 2010, vol.33, no.4, p.589-604. ISSN 1415-4757
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Santos, Lúcia Maria Guimarães et al.
Menkes disease
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case report of an uncommon presentation with white matter lesions
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Arq. Neuro-Psiquiatr.
, Mar 2001, vol.59, no.1, p.125-127. ISSN 0004-282X
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