Detalhe da pesquisa
1.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet
; 109(9): 1692-1712, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055214
2.
Exercise training counteracts the cardiac metabolic remodelling induced by experimental pulmonary arterial hypertension.
Arch Biochem Biophys
; 730: 109419, 2022 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36183841
3.
Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.
Metab Brain Dis
; 36(2): 205-212, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33064266
4.
Impact of iodine supplementation during preconception, pregnancy and lactation on maternal thyroid homeostasis and offspring psychomotor development: protocol of the IodineMinho prospective study.
BMC Pregnancy Childbirth
; 20(1): 693, 2020 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33187482
5.
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
Int J Mol Sci
; 21(17)2020 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32883051
6.
Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence.
Eur J Pediatr
; 178(1): 21-32, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30535772
7.
Follow-up of fatty acid ß-oxidation disorders in expanded newborn screening era.
Eur J Pediatr
; 178(3): 387-394, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30617651
8.
Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.
Br J Haematol
; 183(4): 648-660, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30334577
9.
Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders.
Muscle Nerve
; 56(5): 868-872, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28128857
10.
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
11.
Hyperammonaemic encephalopathy in a teenage girl.
J Paediatr Child Health
; 58(7): 1270-1271, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34725893
12.
Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B12 and Folic Acid Importance.
Cell Mol Neurobiol
; 35(6): 899-911, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25805165
13.
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
J Inherit Metab Dis
; 37(5): 831-40, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599607
14.
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.
Int J Neonatal Screen
; 10(1)2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38535129
15.
History of Neonatal Screening of Congenital Hypothyroidism in Portugal.
Int J Neonatal Screen
; 10(1)2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38390980
16.
Iodineminho Study: Iodine Supplementation and Prevalence of Iodine Deficiency in Pregnant Women.
J Clin Endocrinol Metab
; 2024 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38266309
17.
Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila.
Biochim Biophys Acta
; 1822(8): 1284-92, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22580358
18.
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.
Neurogenetics
; 14(2): 153-60, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23532514
19.
SERAC1 Deficiency- A New Phenotype.
Endocr Metab Immune Disord Drug Targets
; 2023 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37711114
20.
Pharmacogenetic Variants Can Influence Optical Medication Use.
Endocr Metab Immune Disord Drug Targets
; 2023 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38111112