Detalhe da pesquisa
1.
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Mol Genet Metab
; 141(3): 108118, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38244286
2.
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Epilepsia
; 64(6): 1612-1626, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36994644
3.
The impact of liver transplantation on health-related quality of life in (acute) intoxication-type inborn errors of metabolism.
J Inherit Metab Dis
; 46(5): 906-915, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37395264
4.
Neurologic outcome following liver transplantation for methylmalonic aciduria.
J Inherit Metab Dis
; 46(3): 450-465, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36861405
5.
The diagnostic challenge of mild citrulline elevation at newborn screening.
Mol Genet Metab
; 135(4): 327-332, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279366
6.
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
Hum Mutat
; 42(6): 699-710, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715266
7.
Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set.
J Inherit Metab Dis
; 44(1): 215-225, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32785952
8.
Early neurodevelopmental characterization in children with cobalamin C/defect.
J Inherit Metab Dis
; 43(2): 367-374, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31503356
9.
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
J Inherit Metab Dis
; 43(6): 1173-1185, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681732
10.
Dravet syndrome: Early electroclinical findings and long-term outcome in adolescents and adults.
Epilepsia
; 60 Suppl 3: S49-S58, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31904122
11.
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
12.
Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism.
J Pediatr
; 202: 272-278.e4, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193751
13.
In Situ Solid-Gas Reactivity of Nanoscaled Metal Borides from Molten Salt Synthesis.
Inorg Chem
; 56(15): 9225-9234, 2017 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28737907
14.
Simulated photoelectron intensities at the aqueous solution-air interface for flat and cylindrical (microjet) geometries.
Phys Chem Chem Phys
; 19(9): 6330-6333, 2017 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28203664
15.
Quantitative ionization energies and work functions of aqueous solutions.
Phys Chem Chem Phys
; 18(42): 29506-29515, 2016 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-27747349
16.
Quantitative interpretation of molecular dynamics simulations for X-ray photoelectron spectroscopy of aqueous solutions.
J Chem Phys
; 144(15): 154704, 2016 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27389231
17.
Clean graphene electrodes on organic thin-film devices via orthogonal fluorinated chemistry.
Nano Lett
; 15(4): 2555-61, 2015 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25774924
18.
Effect of X-ray spot size on liquid jet photoelectron spectroscopy.
J Synchrotron Radiat
; 22(6): 1528-30, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26524318
19.
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.
Orphanet J Rare Dis
; 19(1): 3, 2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38167094
20.
The forward parachute reaction and independent walking in infants with brain lesions.
Dev Med Child Neurol
; 53(7): 636-40, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21418202