Detalhe da pesquisa
1.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531365
2.
Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease.
Mol Genet Metab
; 141(1): 107736, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38000346
3.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38749428
4.
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Genet Med
; 22(6): 1108-1118, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32089546
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.
Peptide ligand-based ELISA reagents for antibody detection.
Anal Biochem
; 559: 55-61, 2018 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30130491
7.
Early Signs and Symptoms of Leukodystrophies: A Case-Based Guide.
Pediatr Rev
; 42(3): 133-146, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33648992
8.
Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience.
Int J Neonatal Screen
; 8(1)2022 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35076462
9.
Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update.
Int J Neonatal Screen
; 6(3): 73, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33117908
10.
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