Detalhe da pesquisa
1.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain
; 146(8): 3273-3288, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36757831
2.
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Am J Hum Genet
; 98(4): 782-8, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27040691
3.
Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.
Mol Genet Metab
; 128(1-2): 113-121, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395333
4.
Case 6: Seizures and Low Cerebrospinal Fluid Glucose in a 4-day-old Boy.
Pediatr Rev
; 39(5): 265-266, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29716973
5.
Case 1: Microcephaly, Skeletal Dysplasia, and Immunodeficiency in a Newborn.
Pediatr Rev
; 39(7): 359-362, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967080
6.
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Sci Adv
; 8(33): eabo7112, 2022 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35977029
7.
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.
J Pediatr
; 157(2): 271-5, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20394947
8.
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.
PLoS One
; 12(9): e0184022, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28961260
9.
Increased LIS1 expression affects human and mouse brain development.
Nat Genet
; 41(2): 168-77, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19136950