Detalhe da pesquisa
1.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet
; 108(11): 2130-2144, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653363
2.
Severely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1.
Blood
; 139(12): 1833-1849, 2022 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35081253
3.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305855
4.
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.
J Pediatr
; 249: 50-58.e2, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35709957
5.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Int J Mol Sci
; 23(2)2022 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35055180
6.
Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.
Am J Med Genet A
; 185(3): 909-915, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369132
7.
Treatable lysosomal storage diseases in the advent of disease-specific therapy.
Intern Med J
; 50 Suppl 4: 5-27, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33210402
8.
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
N Engl J Med
; 373(11): 1010-20, 2015 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26352813
9.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100828, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37272928
10.
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
J Biol Chem
; 291(39): 20563-73, 2016 09 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27519416
11.
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Am J Hum Genet
; 94(2): 209-22, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462369
12.
Cognitive and behaviour profiles of children with mucopolysaccharidosis Type II.
Cogn Neuropsychol
; 34(6): 347-356, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29210605
13.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Hum Mutat
; 37(7): 653-60, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26931382
14.
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Genet Med
; 18(11): 1090-1096, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26938784
15.
Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.
Mol Genet Metab
; 115(4): 168-73, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26163321
16.
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.
J Inherit Metab Dis
; 38(3): 459-66, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25511235
17.
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
Brain
; 137(Pt 11): 2903-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125611
18.
Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.
Dev Med Child Neurol
; 56(5): 498-502, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24266778
19.
A critically ill child with dark urine.
Arch Dis Child Educ Pract Ed
; 104(1): 15, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29437759
20.
Treatment of a methylmalonyl-CoA mutase stopcodon mutation.
Biochem Biophys Res Commun
; 427(4): 753-7, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23041189