Detalhe da pesquisa
1.
Genomic investigations of unexplained acute hepatitis in children.
Nature
; 617(7961): 564-573, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996872
2.
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
N Engl J Med
; 390(5): 421-431, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38294974
3.
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
4.
Fetal gene therapy.
J Inherit Metab Dis
; 47(1): 192-210, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470194
5.
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
6.
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
7.
Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?
Neuropediatrics
; 54(6): 402-406, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37329878
8.
Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review.
Int J Mol Sci
; 24(17)2023 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37686358
9.
New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.
Int J Mol Sci
; 24(12)2023 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37373322
10.
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
J Inherit Metab Dis
; 45(5): 952-962, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722880
11.
Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders.
Dev Med Child Neurol
; 64(12): 1539-1546, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833379
12.
Study of Intraventricular Cerliponase Alfa for CLN2 Disease.
N Engl J Med
; 378(20): 1898-1907, 2018 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29688815
13.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol
; 88(5): 867-877, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808683
14.
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
N Engl J Med
; 377(17): 1630-1638, 2017 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28976817
15.
Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses.
J Inherit Metab Dis
; 43(2): 309-317, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31452203
16.
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
17.
An Optimized Method for the Proteomic Analysis of Low Volumes of Cell Culture Media and the Secretome: The Application and the Demonstration of Altered Protein Expression in iPSC-Derived Neuronal Cell Lines from Parkinson's Disease Patients.
J Proteome Res
; 18(3): 1198-1207, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30562036
18.
Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Genet Med
; 21(4): 1027, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30228318
19.
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
20.
VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function.
Biochim Biophys Acta Mol Basis Dis
; 1864(5 Pt A): 1609-1621, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29409756