Detalhe da pesquisa
1.
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
N Engl J Med
; 390(5): 421-431, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38294974
2.
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Mol Genet Metab
; 142(2): 108486, 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38733639
3.
Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease.
J Sleep Res
; : e14153, 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38499951
4.
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
5.
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I.
J Inherit Metab Dis
; 45(2): 235-247, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34671989
6.
Galactokinase deficiency: lessons from the GalNet registry.
Genet Med
; 23(1): 202-210, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32807972
7.
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.
J Inherit Metab Dis
; 44(6): 1463-1480, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34418116
8.
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
Genet Med
; 22(5): 908-916, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31904027
9.
Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry.
Mol Genet Metab
; 126(4): 355-361, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30846352
10.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
J Inherit Metab Dis
; 42(2): 333-352, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773687
11.
Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control.
Mol Genet Metab
; 125(1-2): 73-78, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30037504
12.
Epidemiology of mucopolysaccharidoses.
Mol Genet Metab
; 121(3): 227-240, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28595941
13.
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
J Inherit Metab Dis
; 40(2): 171-176, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858262
14.
Further Concerns About Glutamine: A Case Report on Hyperammonemic Encephalopathy.
Crit Care Med
; 43(10): e458-60, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26035146
15.
Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation.
Mol Genet Metab
; 114(3): 438-44, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25639153
16.
Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy.
Pediatr Res
; 77(1-1): 91-8, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25289702
17.
Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up.
Transpl Int
; 28(12): 1447-50, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26358860
18.
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.
J Med Genet
; 51(3): 170-5, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24367056
19.
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
J Inherit Metab Dis
; 37(1): 21-30, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23780642
20.
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Front Genet
; 15: 1355962, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38425716