Detalhe da pesquisa
1.
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG).
Mol Genet Metab
; 142(2): 108488, 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735264
2.
Treatment and outcomes of symptomatic hyperammonemia following asparaginase therapy in children with acute lymphoblastic leukemia.
Mol Genet Metab
; 139(3): 107627, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37327713
3.
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
J Inherit Metab Dis
; 45(2): 157-168, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34625984
4.
Outpatient Primary Care Genetic Testing Primer: What to Order and Testing Considerations.
Mo Med
; 119(4): 390-396, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36118815
5.
S-adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review.
JIMD Rep
; 64(6): 417-423, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37927483
6.
Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter.
Front Genet
; 13: 893057, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35783294
7.
Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations.
Front Pediatr
; 10: 944178, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36245745