Detalhe da pesquisa
1.
Study of the Materials and Techniques of a Rare Papier-Mâché Mushroom Model Crafted in H. Arnoldi Factory.
Molecules
; 28(3)2023 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36770728
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.
Fungi in archives, libraries, and museums: a review on paper conservation and human health.
Crit Rev Microbiol
; 45(5-6): 686-700, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31815562
4.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Ann Neurol
; 82(6): 1004-1015, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29205472
5.
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.
J Inherit Metab Dis
; 37(1): 43-52, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23749220
6.
MEGDEL Syndrome: Expanding the Phenotype and New Mutations.
Neuropediatrics
; 48(5): 382-384, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28505671
7.
Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal.
Front Genet
; 13: 1088040, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-37138899
8.
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
9.
Incidence of maple syrup urine disease in Portugal.
Mol Genet Metab
; 100(4): 385-7, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20466570
10.
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
11.
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
12.
Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
Mol Genet Metab
; 94(2): 148-56, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18378174
13.
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Mol Genet Metab
; 93(4): 475-80, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18164228
14.
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome.
CEN Case Rep
; 7(1): 73-76, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29294253
15.
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations.
Brain Dev
; 39(6): 539-541, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28202261
16.
Sulfite oxidase deficiency--an unusual late and mild presentation.
Brain Dev
; 36(2): 176-9, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23452914
17.
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect.
JIMD Rep
; 16: 1-6, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24757000
18.
Pompe Disease and Normal Whole-Body Magnetic Resonance Imaging.
J Neuromuscul Dis
; 2(s1): S12, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858610