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.
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).
Graefes Arch Clin Exp Ophthalmol
; 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38847892
3.
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.
J Inherit Metab Dis
; 46(2): 220-231, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36266255
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.
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
6.
Mucolipidosis type II and type III: a systematic review of 843 published cases.
Genet Med
; 23(11): 2047-2056, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34172897
7.
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Mol Genet Metab
; 134(1-2): 96-116, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34340878
8.
Bone mineral density is within normal range in most adult phenylketonuria patients.
J Inherit Metab Dis
; 43(2): 251-258, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587319
9.
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
10.
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
11.
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
12.
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
J Inherit Metab Dis
; 41(6): 1247-1258, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30083803
13.
Persistent centripetal fat distribution and metabolic abnormalities in patients in long-term remission of Cushing's syndrome.
Clin Endocrinol (Oxf)
; 82(2): 180-7, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25323660
14.
Successful adult domino living donor liver transplantation in methylmalonic acidemia: case report.
Transl Gastroenterol Hepatol
; 9: 12, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38317745
15.
Erythropoietic protoporphyria in the Netherlands: Clinical features, psychosocial impact and the effect of afamelanotide.
J Dermatol
; 50(4): 445-452, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36579412
16.
Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up.
Orphanet J Rare Dis
; 18(1): 319, 2023 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37821981
17.
Liver involvement in patients with erythropoietic protoporphyria.
Dig Liver Dis
; 54(4): 515-520, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34475006
18.
Mortality in Pedigrees with Acute Intermittent Porphyria.
Life (Basel)
; 12(12)2022 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36556425
19.
Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review.
JIMD Rep
; 63(6): 621-629, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36341168
20.
High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia.
JHEP Rep
; 4(8): 100512, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35811762