Detalhe da pesquisa
1.
Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.
Nature
; 628(8009): 872-877, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38570682
2.
Author Correction: Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.
Nature
; 629(8011): E10, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38649490
3.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC Pediatr
; 24(1): 37, 2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38216926
4.
Potent broadly neutralizing antibody VIR-3434 controls hepatitis B and D virus infection and reduces HBsAg in humanized mice.
J Hepatol
; 79(5): 1129-1138, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37459920
5.
The Ontario Newborn Screening Program: A novel referral center model.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
; 66(11): 1205-1213, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37792011
6.
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Genet Med
; 24(11): 2399-2407, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083289
7.
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Clin Genet
; 102(6): 524-529, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916082
8.
Fluorometric coupled enzyme assay for N-sulfotransferase activity of N-deacetylase/N-sulfotransferase (NDST).
Glycobiology
; 31(9): 1093-1101, 2021 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34080004
9.
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model.
Genet Med
; 23(10): 1864-1872, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050321
10.
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
Mol Genet Metab
; 132(1): 19-26, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33388234
11.
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.
J Inherit Metab Dis
; 44(4): 847-856, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33325055
12.
Altered relaxation times in MRI indicate bronchopulmonary dysplasia.
Thorax
; 75(2): 184-187, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048507
13.
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
Clin Genet
; 98(6): 613-619, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32888207
14.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Ann Neurol
; 86(1): 116-128, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018246
15.
Size-dependent optical properties of periodic arrays of semiconducting nanolines.
Opt Express
; 28(5): 6781-6793, 2020 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32225918
16.
Magnetic resonance imaging reveals specific anatomical changes in the brain of Agat- and Gamt-mice attributed to creatine depletion and guanidinoacetate alteration.
J Inherit Metab Dis
; 43(4): 827-842, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31951021
17.
General Movements and Outcome in Children with Birthweights ≤ 500 Grams at Age 5 to 6 Years.
Z Geburtshilfe Neonatol
; 224(2): 86-92, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31390664
18.
Religious Values in Clinical Practice are Here to Stay.
J Relig Health
; 59(1): 188-194, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30328542
19.
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
Mol Genet Metab
; 127(4): 336-345, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31326288
20.
Identification and Containment of a Cluster of Two Bacillus cereus Infections in a Neonatal Intensive Care Unit.
Can J Infect Dis Med Microbiol
; 2019: 1506583, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30805067