Detalhe da pesquisa
1.
Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil.
J Inherit Metab Dis
; 45(2): 340-352, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34910312
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.
Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.
Mol Genet Metab
; 127(4): 355-360, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31324526
4.
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
J Inherit Metab Dis
; 42(1): 93-106, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740724
5.
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
J Inherit Metab Dis
; 39(5): 661-672, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106216
6.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
J Inherit Metab Dis
; 38(6): 1041-57, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25875215
7.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
J Inherit Metab Dis
; 38(6): 1059-74, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25875216
8.
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
9.
Neonatal Glycogen Storage Disease Type IA: A Rare Presentation.
Endocr Metab Immune Disord Drug Targets
; 2023 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37859321
10.
Benefits and Risks of Sharing Genomic Data for Research: Comparing the Views of Rare Disease Patients, Informal Carers and Healthcare Professionals.
Int J Environ Res Public Health
; 19(14)2022 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35886636
11.
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.
J Inherit Metab Dis
; 34(3): 835-42, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21347589
12.
Role of RNA in Molecular Diagnosis of MADD Patients.
Biomedicines
; 9(5)2021 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34064479
13.
Incidence of maple syrup urine disease in Portugal.
Mol Genet Metab
; 100(4): 385-7, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20466570
14.
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
J Inherit Metab Dis
; 33(1): 51-60, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20140523
15.
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
J Inherit Metab Dis
; 38(6): 1155-6, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077420
16.
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
J Inherit Metab Dis
; 38(6): 1157-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077421
17.
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
18.
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
Mol Genet Metab
; 94(4): 469-475, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18502162
19.
How to handle HMG-CoA lyase deficiency and type 1 diabetes? A challenging case report.
Endocrinol Diabetes Nutr (Engl Ed)
; 70(9): 609-611, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37996203
20.
Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant.
JIMD Rep
; 42: 113-119, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478218