E-LIB Suche - Ergebnisse für: Rodrigues, Esmeralda

1

Acute Encephalopathy in a 10-Year-Old Patient With Maple Sy..:

Miragaia, Pedro ; Grangeia, Ana ; Rodrigues, Esmeralda..
Cureus. , 2024

Link: https://doi.org/10.7759/..

2

Leukocyte Imbalances in Mucopolysaccharidoses Patients:

Lopes, Nuno ; Maia, Maria L. ; Pereira, Cátia S....
Biomedicines. 11 (2023) 6 - p. 1699 , 2023

Link: https://doi.org/10.3390/..

3

Leigh Syndrome Spectrum: A Portuguese Population Cohort in ..:

Baldo, Manuela Schubert ; Nogueira, Célia ; Pereira, Cristina...
Genes. 14 (2023) 8 - p. 1536 , 2023

Link: https://doi.org/10.3390/..

4

Novel MTO1 mutations associated with an intrafamilial pheno..:

Almeida, Catarina Maria ; Rodrigues, Esmeralda ; Campos, Teresa Almeida..
Egyptian Journal of Medical Human Genetics. 24 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

5

Visual impairment in mucopolysaccharidosis VI:

Magalhães, Augusto Monteiro ; Moleiro, Ana Filipa ; Rodrigues, Esmeralda...
JIMD Reports. 64 (2023) 2 - p. 129-137 , 2023

Link: https://doi.org/10.1002/..

6

How to handle HMG-CoA lyase deficiency and type 1 diabetes?..:

Morais, André ; Pinheiro, Teresa ; Figueiredo, Ana Sofia...
Endocrinología, Diabetes y Nutrición (English ed.). 70 (2023) 9 - p. 609-611 , 2023

Link: https://doi.org/10.1016/..

7

Congenital heart defects associated with pathogenic variant..:

Quental, Rita ; Gonçalves, Daniel ; Rodrigues, Esmeralda...
American Journal of Medical Genetics Part A. 188 (2022) 4 - p. 1311-1316 , 2022

Link: https://doi.org/10.1002/..

8

Congenital Disorders of Glycosylation in Portugal—Two Decad..:

Quelhas, Dulce ; Martins, Esmeralda ; Azevedo, Luísa...
The Journal of Pediatrics. 231 (2021) - p. 148-156 , 2021

Link: https://doi.org/10.1016/..

9

Hyperammonaemic encephalopathy in a teenage girl:

Magalhães, Tiago ; Campos, Teresa ; Rodrigues, Esmeralda...
Journal of Paediatrics and Child Health. 58 (2021) 7 - p. 1270-1271 , 2021

Link: https://doi.org/10.1111/..

10

Phenylketonuria in Portugal: Genotype–phenotype correlation..:

Ferreira, Filipa ; Azevedo, Luísa ; Neiva, Raquel...
Molecular Genetics & Genomic Medicine. 9 (2021) 3 - p. , 2021

Link: https://doi.org/10.1002/..

11

Macular Changes in a Mucopolysaccharidosis Type I Patient w..:

Magalhães, Augusto ; Cunha, Ana Maria ; Vilares-Morgado, Rodrigo...
Case Reports in Ophthalmological Medicine. 2021 (2021) - p. 1-7 , 2021

Link: https://doi.org/10.1155/..

12

SLC37A4‐CDG: Second patient:

Wilson, Matthew P. ; Quelhas, Dulce ; Leão‐Teles, Elisa...
JIMD Reports. 58 (2021) 1 - p. 122-128 , 2021

Link: https://doi.org/10.1002/..

13

Role of RNA in Molecular Diagnosis of MADD Patients:

Nogueira, Célia ; Silva, Lisbeth ; Marcão, Ana...
Biomedicines. 9 (2021) 5 - p. 507 , 2021

Link: https://doi.org/10.3390/..

14

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal St..:

Pereira, Catia S. ; Pérez-Cabezas, Begoña ; Ribeiro, Helena...
Frontiers in Immunology. 10 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

15

Quantification of urinary derivatives of Phenylbutyric and ..:

Andrade, Fernando ; Vitoria, Isidro ; Martín Hernández, Elena...
Journal of Pharmaceutical and Biomedical Analysis. 176 (2019) - p. 112798 , 2019

Link: https://doi.org/10.1016/..