Detalhe da pesquisa
1.
The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies.
Mol Genet Metab
; 140(3): 107693, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37716025
2.
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
J Inherit Metab Dis
; 45(6): 1106-1117, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36093991
3.
Galactokinase deficiency: lessons from the GalNet registry.
Genet Med
; 23(1): 202-210, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32807972
4.
Transient developmental delays in infants with Duarte-2 variant galactosemia.
Mol Genet Metab
; 134(1-2): 132-138, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34391645
5.
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.
Mol Genet Metab
; 126(4): 368-376, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30718057
6.
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
Mol Genet Metab
; 125(1-2): 118-126, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30031689
7.
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
Mol Genet Metab
; 120(3): 213-222, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27913098
8.
ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia.
Cell Rep
; 43(1): 113622, 2024 01 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38159274
9.
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Front Genet
; 15: 1355962, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38425716
10.
Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea.
Clin Chem
; 64(8): 1260-1262, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30054302
11.
The hypergonadotropic hypogonadism conundrum of classic galactosemia.
Hum Reprod Update
; 29(2): 246-258, 2023 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36512573
12.
Galactose epimerase deficiency: lessons from the GalNet registry.
Orphanet J Rare Dis
; 17(1): 331, 2022 09 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36056436
13.
A fission yeast-based platform for phosphodiesterase inhibitor HTSs and analyses of phosphodiesterase activity.
Handb Exp Pharmacol
; (204): 135-49, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-21695638
14.
[13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.
JIMD Rep
; 59(1): 104-109, 2021 May.
Artigo
Inglês
| MEDLINE | ID: mdl-33977035
15.
The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation.
JIMD Rep
; 54(1): 3-8, 2020 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-32685343
16.
Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.
JIMD Rep
; 46(1): 63-69, 2019 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-31240156
17.
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.
JIMD Rep
; 48(1): 26-35, 2019 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-31392110
18.
Development of a fission yeast-based high-throughput screen to identify chemical regulators of cAMP phosphodiesterases.
J Biomol Screen
; 13(1): 62-71, 2008 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-18227226
19.
Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.
Pediatr Clin North Am
; 65(2): 337-352, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29502917
20.
Hereditary galactosemia.
Metabolism
; 83: 188-196, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29409891