Detalhe da pesquisa
1.
The effects of cholecalciferol and afamelanotide on vitamin D levels in erythropoietic protoporphyria; a multicentre cohort study.
Br J Dermatol
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38634774
2.
Social cognition, emotion regulation and social competence in classical galactosemia patients without intellectual disability.
Acta Neuropsychiatr
; : 1-12, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38178723
3.
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.
N Engl J Med
; 382(24): 2289-2301, 2020 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32521132
4.
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.
J Inherit Metab Dis
; 2023 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38069502
5.
Off-resonance saturation as an MRI method to quantify mineral- iron in the post-mortem brain.
Magn Reson Med
; 87(3): 1276-1288, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34655092
6.
Objective light exposure measurements and circadian rhythm in patients with erythropoietic protoporphyria: A case-control study.
Mol Genet Metab
; 135(3): 215-220, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35034844
7.
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
J Inherit Metab Dis
; 45(5): 952-962, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722880
8.
MR imaging for the quantitative assessment of brain iron in aceruloplasminemia: A postmortem validation study.
Neuroimage
; 245: 118752, 2021 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34823024
9.
Dersimelagon in Erythropoietic Protoporphyrias.
N Engl J Med
; 388(26): 2492, 2023 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37379150
10.
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.
Hepatology
; 71(5): 1546-1558, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31512765
11.
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Mol Genet Metab
; 129(3): 171-176, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31954591
12.
The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
J Inherit Metab Dis
; 43(3): 507-517, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845337
13.
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
J Inherit Metab Dis
; 43(3): 424-437, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31828787
14.
Successful Treatment of Severe Hyperammonaemia with Ultra-High Dose Continuous Veno-Venous Haemodiafiltration.
Blood Purif
; 48(3): 283-285, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31055565
15.
Afamelanotide for Erythropoietic Protoporphyria.
N Engl J Med
; 373(1): 48-59, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26132941
16.
The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study.
Mol Genet Metab
; 125(1-2): 96-103, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30007854
17.
Correction to: Medical and financial burden of acute intermittent porphyria.
J Inherit Metab Dis
; 41(6): 1297-1298, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30054762
18.
Medical and financial burden of acute intermittent porphyria.
J Inherit Metab Dis
; 41(5): 809-817, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29675607
19.
Mucolipidosis type III, a series of adult patients.
J Inherit Metab Dis
; 41(5): 839-848, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29704188
20.
Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study.
Behav Genet
; 47(5): 486-497, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28776207