Detalhe da pesquisa
1.
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Epilepsia
; 64(6): 1612-1626, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36994644
2.
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
J Inherit Metab Dis
; 2023 Dec 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38044746
3.
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.
J Pediatr
; 249: 50-58.e2, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35709957
4.
A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.
Mol Genet Metab
; 134(1-2): 175-181, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34247932
5.
Long-term cognitive and psychosocial outcomes in adults with phenylketonuria.
J Inherit Metab Dis
; 44(6): 1353-1368, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34145605
6.
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Genet Med
; 22(1): 199-209, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31462754
7.
Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses.
J Inherit Metab Dis
; 43(2): 309-317, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31452203
8.
Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.
Mol Genet Metab
; 126(2): 121-130, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30528227
9.
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B.
J Pediatr
; 197: 198-206.e2, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29661560
10.
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Acta Paediatr
; 107(12): 2059-2065, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30242902
11.
Monocarboxylate transporter 1 deficiency and ketone utilization.
N Engl J Med
; 371(20): 1900-7, 2014 Nov 13.
Artigo
Inglês
| MEDLINE | ID: mdl-25390740
12.
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
J Inherit Metab Dis
; 40(3): 357-368, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28251416
13.
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Brain
; 139(11): 2844-2854, 2016 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27604308
14.
Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.
Eur J Pediatr
; 175(2): 261-72, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26350228
15.
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI.
Anal Chem
; 87(24): 12238-44, 2015 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26537538
16.
Fifteen-minute consultation: Red flags for metabolic disease in routine bloods.
Arch Dis Child Educ Pract Ed
; 104(1): 16-19, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29779011
17.
Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.
Mol Genet Metab
; 110(4): 418-23, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24090706
18.
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
Am J Med Genet A
; 161A(9): 2334-8, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23918765
19.
A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.
J Clin Invest
; 133(2)2023 01 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36413418
20.
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.
J Med Genet
; 48(10): 691-7, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21931170