Detalhe da pesquisa
1.
Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen.
Mol Genet Metab
; 142(1): 108347, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38401382
2.
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
N Engl J Med
; 380(15): 1433-1441, 2019 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30970188
3.
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Mol Genet Metab
; 135(4): 350-356, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279367
4.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 44(1): 178-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200442
5.
Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.
Clin Chem
; 68(5): 732-735, 2022 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36189752
6.
A case for newborn screening for pyridoxine-dependent epilepsy.
Cold Spring Harb Mol Case Stud
; 8(2)2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35217564
7.
Clinical Reasoning: Pediatric Seizures of Unknown Cause.
Neurology
; 98(24): 1023-1028, 2022 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35470136
8.
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Neurology
; 2022 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36008148
9.
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.
Orphanet J Rare Dis
; 16(1): 170, 2021 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33845862
10.
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
J Clin Invest
; 131(15)2021 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34138754
11.
P4 medicine for epilepsy and intellectual disability: nutritional therapy for inherited metabolic disease.
Emerg Top Life Sci
; 3(1): 75-95, 2019 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33523196
12.
A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND).
Front Neurol
; 10: 1369, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32132962
13.
Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions.
Front Neurol
; 9: 1016, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30559706
14.
Complications and Disease Recurrence After Primary Ileocecal Resection in Pediatric Crohn's Disease: A Multicenter Cohort Analysis.
Inflamm Bowel Dis
; 23(2): 272-282, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28079626