Detalhe da pesquisa
1.
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
2.
REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.
Mol Genet Metab
; 133(3): 231-241, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33985889
3.
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Hum Mol Genet
; 27(20): 3475-3487, 2018 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29931299
4.
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
Genet Med
; 22(5): 908-916, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31904027
5.
A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype.
Mol Genet Metab
; 131(4): 398-404, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33279411
6.
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Mol Genet Metab
; 130(1): 58-64, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32173240
7.
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
J Inherit Metab Dis
; 43(5): 1024-1036, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32160317
8.
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
9.
COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
Pediatr Nephrol
; 33(7): 1257-1261, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29637272
10.
ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.
Mitochondrion
; 78: 101905, 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38797357
12.
A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia.
J Investig Med High Impact Case Rep
; 9: 23247096211014685, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33966472
13.
The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.
Mitochondrion
; 55: 8-13, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32931937
14.
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Mitochondrion
; 44: 58-64, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29307858
15.
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
Skelet Muscle
; 8(1): 17, 2018 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29855340