Suchergebnisse - "Esmeralda Martins"

PubPharm (24)

1

P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP)

in: Genetics in Medicine Open | 2024

von Roberto Giugliani | Antonio Gonzalez-Meneses | Christina Grant | +11

2

Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients

in: International Journal of Molecular Sciences | 2024

von Sofia Carvalho | Juliana Inês Santos | Luciana Moreira | +18

3

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era

in: Genes | 2023

von Manuela Schubert Baldo | Célia Nogueira | Cristina Pereira | +10

4

Leukocyte Imbalances in Mucopolysaccharidoses Patients

in: Biomedicines | 2023

von Nuno Lopes | Maria L. Maia | Cátia S. Pereira | +13

5

Dyslipidemia Diagnosis and Treatment: Risk Stratification in Children and Adolescents

in: Journal of Nutrition and Metabolism | 2022

von Sara Mosca | Graça Araújo | Vanessa Costa | +6

6

Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses

in: Molecular Genetics & Genomic Medicine | 2021

von Filipa Ferreira | Luísa Azevedo | Raquel Neiva | +20

7

Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective

in: Orphanet Journal of Rare Diseases | 2021

von Maria João Pena | Alex Pinto | Manuela Ferreira de Almeida | +11

8

SLC35A2-CDG: Novel variant and review

in: Molecular Genetics and Metabolism Reports | 2021

von Dulce Quelhas | Joana Correia | Jaak Jaeken | +7

9

Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center

in: Genes | 2021

von Sofia Barbosa-Gouveia | María E. Vázquez-Mosquera | Emiliano González-Vioque | +7

10

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

in: International Journal of Molecular Sciences | 2020

von Marisa Encarnação | Maria Francisca Coutinho | Lisbeth Silva | +8