Detalhe da pesquisa
1.
Severe Hemolytic Anemia: Atypical Presentation of Cobalamin Deficiency.
J Pediatr Hematol Oncol
; 46(3): 172-174, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38408112
2.
Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.
J Pediatr
; 231: 148-156, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340551
3.
Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms.
Eur J Pediatr
; 178(4): 515-523, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30693370
4.
Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
Metab Brain Dis
; 33(3): 875-884, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29435807
5.
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
J Inherit Metab Dis
; 40(1): 21-48, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27905001
6.
Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.
Genes (Basel)
; 14(8)2023 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628588
7.
Dyslipidemia Diagnosis and Treatment: Risk Stratification in Children and Adolescents.
J Nutr Metab
; 2022: 4782344, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35237450
8.
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort.
Orphanet J Rare Dis
; 16(1): 445, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34686181
9.
SLC35A2-CDG: Novel variant and review.
Mol Genet Metab Rep
; 26: 100717, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33552911
10.
Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations.
Nutrients
; 13(9)2021 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34578995
11.
Implementing a Transition Program from Paediatric to Adult Services in Phenylketonuria: Results After Two Years of Follow-Up with an Adult Team.
Nutrients
; 13(3)2021 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33671057
12.
Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective.
Orphanet J Rare Dis
; 16(1): 84, 2021 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33581730
13.
Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.
Mol Genet Genomic Med
; 9(3): e1559, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33465300
14.
TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW.
Rev Paul Pediatr
; 38: e2018158, 2020.
Artigo
em Inglês, Português
| MEDLINE | ID: mdl-32520295
15.
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Orphanet J Rare Dis
; 15(1): 298, 2020 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33092611
16.
Iron-sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3-methylglutaconic aciduria.
JIMD Rep
; 49(1): 11-16, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31497476
17.
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
Curr Mol Med
; 19(7): 487-493, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31418342
18.
Over Restriction of Dietary Protein Allowance: The Importance of Ongoing Reassessment of Natural Protein Tolerance in Phenylketonuria.
Nutrients
; 11(5)2019 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31052331
19.
Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.
Mitochondrion
; 47: 309-317, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30831263
20.
LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION. / SÍNDROME DE LEIGH: A PROPÓSITO DE UM CASO CLÍNICO COM MUTAÇÃO NO DNA MITOCONDRIAL.
Rev Paul Pediatr
; 36(4): 519-523, 2018.
Artigo
em Português, Inglês
| MEDLINE | ID: mdl-30379275