Detalhe da pesquisa
1.
Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.
JIMD Rep
; 64(6): 403-409, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37927481
2.
Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment.
Cold Spring Harb Mol Case Stud
; 9(4)2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37709555
3.
An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism.
bioRxiv
; 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168314
4.
Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans.
Cell Rep
; 27(5): 1376-1386.e6, 2019 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31042466