Detalhe da pesquisa
1.
Gene therapy for urea cycle defects: An update from historical perspectives to future prospects.
J Inherit Metab Dis
; 47(1): 50-62, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37026568
2.
Liver-directed gene therapy for inherited metabolic diseases.
J Inherit Metab Dis
; 47(1): 9-21, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38171926
3.
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Epilepsia
; 64(6): 1612-1626, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36994644
4.
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
J Inherit Metab Dis
; 2023 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044746
5.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
J Med Genet
; 59(4): 377-384, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33737400
6.
ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.
Hum Genet
; 140(10): 1471-1485, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34417872
7.
The exosome journey: from biogenesis to uptake and intracellular signalling.
Cell Commun Signal
; 19(1): 47, 2021 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33892745
8.
Novel therapies for mucopolysaccharidosis type III.
J Inherit Metab Dis
; 44(1): 129-147, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32944950
9.
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Int J Mol Sci
; 21(14)2020 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32709131
10.
Ascending Vaginal Infection Using Bioluminescent Bacteria Evokes Intrauterine Inflammation, Preterm Birth, and Neonatal Brain Injury in Pregnant Mice.
Am J Pathol
; 188(10): 2164-2176, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30036519
11.
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
12.
Liver neoplasms in methylmalonic aciduria: An emerging complication.
J Inherit Metab Dis
; 42(5): 793-802, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31260114
13.
Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.
J Inherit Metab Dis
; 42(6): 1147-1161, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30723942
14.
Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis.
Pediatr Res
; 81(5): 712-721, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28085791
15.
Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects.
J Inherit Metab Dis
; 40(4): 497-517, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28567541
16.
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
J Inherit Metab Dis
; 40(3): 357-368, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28251416
17.
Neonatal hemochromatosis: diagnostic work-up based on a series of 56 cases of fetal death and neonatal liver failure.
J Pediatr
; 166(1): 66-73, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25444000
18.
Fetal gene therapy for neurodegenerative lysosomal storage diseases.
J Inherit Metab Dis
; 42(3): 391-393, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30715735
19.
Transient neonatal liver disease after maternal antenatal intravenous Ig infusions in gestational alloimmune liver disease associated with neonatal haemochromatosis.
J Pediatr Gastroenterol Nutr
; 59(5): 629-35, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25079484
20.
Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation.
Stem Cell Res
; 76: 103365, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38422816