Genes, crianças e pediatras

by Esmeralda Martins
Published 2016-03-01

Inherited metabolic disorders: a century of evolution

by Esmeralda Martins
Published 2020-08-01

Colestase Neonatal (Revisão de 50 Casos)

by Ermelinda Santos Silva, Esmeralda Martins, Frederico Silvestre, Margarida Medina
Published 2014-09-01

Genes, Children and Pediatricians

by Margarida Paiva Coelho, Ana Rita Soares, Catarina Magalhães, Esmeralda Martins
Published 2020-06-01

QUANDO A ECOGRAFIA CARDÍACA REVELA A PONTA DO ICEBERG

by Daniel Meireles, Anabela Bandeira, Marília Loureiro, Sílvia Álvares, Esmeralda Martins
Published 2017-01-01

Genes, Children and Pediatricians

by Joana Correia, Marta Rios, Paula Ferreira, Esmeralda Martins, Anabela Bandeira
Published 2017-01-01

Avaliação da efectividade do tratamento das doenças metabólicas tipo intoxicação diagnosticadas no período sintomático

by Esmeralda Martins, Clara Barbot, Maria Luís Cardoso, Ermelinda Silva, Laura Vilarinho
Published 2014-08-01

Dysmorphic syndrome in newborn with hypocholesterolemia

by Inês Ferreira, Sandra Pereira, Sónia Lira, Anabela Bandeira, Dulce Quelhas, Esmeralda Martins
Published 2015-09-01

Colangite Esclerosante Neonatal Afectando Dois Irmãos

by Ermelinda Santos Silva, Carmen Carvalho, Esmeralda Martins, Fernando Pereira, Frederico Silvestre, Margarida Medina
Published 2014-09-01

Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients From a Portuguese Tertiary Center

by Ermelinda Santos Silva, Ermelinda Santos Silva, Ermelinda Santos Silva, Alexandra Almeida, Simão Frutuoso, Esmeralda Martins, Esmeralda Martins, Maria João Valente, Alice Santos-Silva, Ana Isabel Lopes, Ana Isabel Lopes
Published 2020-06-01

Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children

by Catarina Leuzinger Dias, Inês Maio, José Ricardo Brandão, Edite Tomás, Esmeralda Martins, Ermelinda Santos Silva
Published 2019-03-01

Dismorfia Facial e Atraso de Crescimento Intra-Uterino na Acidúria Metilmalónica Associada a Homocistinúria Caso Clínico

by Teresa Oliveira, Esmeralda Martins, Helena Cunha Reis, Clara Barbot, Maria Luis Cardoso, Céu R. Mota
Published 2014-09-01

Iron‐sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3‐methylglutaconic aciduria

by Margarida Paiva Coelho, Joana Correia, Aureliano Dias, Célia Nogueira, Anabela Bandeira, Esmeralda Martins, Laura Vilarinho
Published 2019-09-01

ESPLENOMEGALIA PERSISTENTE ASSINTOMÁTICA – UM ACHADO NÃO TRANQUILIZADOR

by Margarida Coelho, Inês Falcão, Emília Costa, Isabel Couto Guerra, Esmeralda Cleto, Esmeralda Martins, Anabela Bandeira
Published 2015-12-01

CARDIOMIOPATIA DILATADA – QUAL A ETIOLOGIA?

by Sara Silva Leite, Fábio Barroso, Maria João Nabais Sá, Esmeralda Martins, Marília Loureiro, Sílvia Álvares
Published 2017-01-01

Hyponatremic hypertensive syndrome secondary to renal ischemia – Case report

by Joana Cunha Oliveira, Mariana Matos Martins, Esmeralda Martins, Gustavo Rocha, Cláudia Moura, Helena Pinto, Ana Teixeira
Published 2018-01-01

INSUFICIÊNCIA HEPÁTICA NO RECÉM-NASCIDO E RASTREIO ENDÓCRINO-METABÓLICO

by Daniel Meireles, Helena Moreira Silva, Margarida Coelho, Filipe Oliveira, Anabela Bandeira, Esmeralda Martins, Ermelinda Santos Silva
Published 2016-07-01

TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW

by Fábio Barroso, Joana Correia, Anabela Bandeira, Carla Carmona, Laura Vilarinho, Manuela Almeida, Júlio César Rocha, Esmeralda Martins

SLC35A2-CDG: Novel variant and review

by Dulce Quelhas, Joana Correia, Jaak Jaeken, Luísa Azevedo, Mónica Lopes-Marques, Anabela Bandeira, Liesbeth Keldermans, Gert Matthijs, Luisa Sturiale, Esmeralda Martins
Published 2021-03-01

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants

by Marisa Encarnação, Maria Francisca Coutinho, Lisbeth Silva, Diogo Ribeiro, Souad Ouesleti, Teresa Campos, Helena Santos, Esmeralda Martins, Maria Teresa Cardoso, Laura Vilarinho, Sandra Alves
Published 2020-09-01