Detalhe da pesquisa
1.
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
Am J Hum Genet
; 107(6): 1044-1061, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159882
2.
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
J Inherit Metab Dis
; 46(6): 1063-1077, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37429829
3.
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.
Am J Hum Genet
; 102(4): 676-684, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29576217
4.
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
J Inherit Metab Dis
; 44(3): 629-638, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33274439
5.
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
J Inherit Metab Dis
; 44(4): 857-870, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33496032
6.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Am J Hum Genet
; 101(2): 283-290, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28757203
7.
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
Ann Neurol
; 83(5): 970-979, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29665094
8.
Children with multiphasic disseminated encephalomyelitis and antibodies to the myelin oligodendrocyte glycoprotein (MOG): Extending the spectrum of MOG antibody positive diseases.
Mult Scler
; 22(14): 1821-1829, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26869530
9.
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
Am J Hum Genet
; 90(1): 61-8, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22243965
10.
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Brain
; 136(Pt 4): 1146-54, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23449775
11.
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Ann Clin Transl Neurol
; 11(4): 883-898, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263760
12.
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
Hum Mutat
; 33(8): 1207-15, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22508683
13.
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Sci Rep
; 11(1): 19300, 2021 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34588557
14.
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype.
Pediatrics
; 139(1)2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28031453
15.
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
Hum Mutat
; 27(8): 748-59, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16835865
16.
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Sci Rep
; 11(1): 20618, 2021 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34642359
17.
Neonatal screening for defects of the mitochondrial trifunctional protein.
Mol Genet Metab
; 85(2): 108-14, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15896654
18.
Neonatal screening for citrullinaemia.
Eur J Pediatr
; 162(6): 417-20, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12684898
19.
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
Am J Hum Genet
; 75(6): 1136-42, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15486829