Detalhe da pesquisa
1.
Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.
Mol Psychiatry
; 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38200289
2.
Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia.
J Inherit Metab Dis
; 47(1): 63-79, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37530705
3.
New insights into the pathophysiology of methylmalonic acidemia.
J Inherit Metab Dis
; 46(3): 436-449, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37078237
4.
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
J Inherit Metab Dis
; 46(4): 554-572, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37243446
5.
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Brain
; 145(7): 2602-2616, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35104841
6.
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
Hum Mol Genet
; 29(13): 2109-2123, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32186706
7.
Growth advantage of corrected hepatocytes in a juvenile model of methylmalonic acidemia following liver directed adeno-associated viral mediated nuclease-free genome editing.
Mol Genet Metab
; 137(1-2): 1-8, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35868241
8.
Promoterless, Nuclease-Free Genome Editing Confers a Growth Advantage for Corrected Hepatocytes in Mice With Methylmalonic Acidemia.
Hepatology
; 73(6): 2223-2237, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32976669
9.
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
Am J Med Genet A
; 188(4): 1124-1141, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35107211
10.
Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemia.
J Inherit Metab Dis
; 45(5): 872-888, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35766386
11.
Enhanced Efficacy and Increased Long-Term Toxicity of CNS-Directed, AAV-Based Combination Therapy for Krabbe Disease.
Mol Ther
; 29(2): 691-701, 2021 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33388420
12.
Severity modeling of propionic acidemia using clinical and laboratory biomarkers.
Genet Med
; 23(8): 1534-1542, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34007002
13.
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Genet Med
; 23(8): 1522-1533, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820958
14.
Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1.
Hum Mol Genet
; 26(1): 52-64, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27798114
15.
Chronic kidney disease in propionic acidemia.
Genet Med
; 21(12): 2830-2835, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31249402
16.
Mission possible: Gene therapy for inherited metabolic diseases.
J Inherit Metab Dis
; 47(1): 5-6, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221761
17.
Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.
Curr Opin Clin Nutr Metab Care
; 21(1): 42-48, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29035969
18.
Genome editing for inborn errors of metabolism: advancing towards the clinic.
BMC Med
; 15(1): 43, 2017 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28238287
19.
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Am J Hum Genet
; 93(3): 506-14, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24011988
20.
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.
Genet Med
; 18(4): 386-95, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26270765