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Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
Doenças Metabólicas : [19]
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Recent Submissions
MEGDEL Syndrome: Expanding the Phenotype and New Mutations
Progressive Deafness-Dystonia due to SERAC1 Mutations: A Study of 67 cases
AP4S1 Splice-Site Mutation in a Case of Spastic Paraplegia Type 52 with Polymicrogyria
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis
Atypical Adult-Onset Methylmalonic Acidemia and Homocystinuria Presenting as Hemolytic Uremic Syndrome
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Author
16
Sequeira, S
6
Ferreira, AC
3
Wevers, RA
2
Afonso, J
2
Antunes, D
2
Cabral, A
2
Correia, H
2
Duarte, M
2
Ferreira, C
2
Marques, M
.
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Subject
18
HDE MTB
7
HDE NEU PED
6
HDE GEN
4
Caso Clínico
4
Humans
3
Female
2
Carboxylic Ester Hydrolases
2
Case Report
2
Child
2
Criança
.
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Date issued
16
2010 - 2018
3
2000 - 2009
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MTB - Artigos
[15]
MTB - Comunicações e Conferências
[4]
