Detalhe da pesquisa
1.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074901
2.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Am J Hum Genet
; 101(5): 768-788, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100089
3.
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
J Inherit Metab Dis
; 43(6): 1333-1348, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681751
4.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat
; 40(7): 908-925, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817854
5.
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.
J Pediatr
; 214: 165-167.e1, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31477379
6.
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.
J Pediatr
; 190: 130-135, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28728811
7.
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.
Mol Genet Metab
; 101(2-3): 172-7, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20675163
8.
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Int J Neonatal Screen
; 6(1): 4, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073003
9.
Using a Personal Glucose Meter and Alkaline Phosphatase for Point-of-Care Quantification of Galactose-1-Phosphate Uridyltransferase in Clinical Galactosemia Diagnosis.
Chem Asian J
; 10(10): 2221-7, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26350570
10.
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.
Mol Genet Metab Rep
; 1: 114-123, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24749080
11.
Zonisamide ameliorates symptoms of secondary paroxysmal dystonia.
Pediatr Neurol
; 43(3): 205-8, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20691944
12.
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
Hum Genet
; 114(1): 68-76, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14513358