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
em Inglês
| MEDLINE | ID: mdl-37716025
2.
Genetic Determinants of Sudden Unexpected Death in Pediatrics.
Genet Med
; 24(4): 839-850, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027292
3.
Pathophysiology of long-term complications in classic galactosemia: What we do and do not know.
Mol Genet Metab
; 137(1-2): 33-39, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882174
4.
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
em Inglês
| MEDLINE | ID: mdl-36093991
5.
Galactokinase deficiency: lessons from the GalNet registry.
Genet Med
; 23(1): 202-210, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32807972
6.
Transient developmental delays in infants with Duarte-2 variant galactosemia.
Mol Genet Metab
; 134(1-2): 132-138, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34391645
7.
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
Am J Med Genet A
; 185(1): 203-207, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33037779
8.
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Mol Genet Metab
; 131(1-2): 147-154, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32828637
9.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Ann Neurol
; 86(1): 116-128, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018246
10.
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
Am J Med Genet A
; 182(6): 1426-1437, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32275123
11.
Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia.
J Inherit Metab Dis
; 43(6): 1205-1218, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32592186
12.
A retrospective study of adult patients with noncirrhotic hyperammonemia.
J Inherit Metab Dis
; 43(6): 1165-1172, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32713002
13.
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.
J Inherit Metab Dis
; 43(3): 392-408, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31808946
14.
An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation.
J Inherit Metab Dis
; 43(4): 880-890, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32064623
15.
High serum serotonin in sudden infant death syndrome.
Proc Natl Acad Sci U S A
; 114(29): 7695-7700, 2017 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28674018
16.
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
em Inglês
| MEDLINE | ID: mdl-30718057
17.
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Ann Neurol
; 84(5): 766-780, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30295347
18.
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).
J Inherit Metab Dis
; 42(1): 169-177, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740733
19.
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
em Inglês
| MEDLINE | ID: mdl-30031689
20.
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.
Mol Genet Metab
; 124(2): 161-167, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29685658