Detalhe da pesquisa
1.
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Genet Med
; 26(4): 101039, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054409
2.
ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.
Mol Genet Metab
; 141(1): 108097, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38113552
3.
Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.
Mol Genet Metab
; 141(3): 108112, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38301530
4.
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world data.
J Inherit Metab Dis
; 46(3): 391-405, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37078465
5.
The challenge of understanding and predicting phenotypic diversity in urea cycle disorders.
J Inherit Metab Dis
; 46(6): 1007-1016, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37702610
6.
Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.
Mol Genet Metab
; 136(4): 274-281, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35839600
7.
Postauthorization safety study of betaine anhydrous.
J Inherit Metab Dis
; 45(4): 719-733, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358327
8.
Quantitative retrospective natural history modeling for orphan drug development.
J Inherit Metab Dis
; 44(1): 99-109, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32845020
9.
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Hum Mutat
; 41(5): 946-960, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943503
10.
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.
Mol Genet Metab
; 131(4): 390-397, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33288448
11.
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
12.
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Hum Mutat
; 40(7): 938-951, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31067009
13.
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.
Genet Med
; 21(2): 347-352, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29875421
14.
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.
Genet Med
; 21(10): 2208-2215, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30899093
15.
Ultra-orphan lysosomal storage diseases: A cross-sectional quantitative analysis of the natural history of alpha-mannosidosis.
J Inherit Metab Dis
; 42(5): 975-983, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31222755
16.
A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features.
Genet Med
; 20(5): 524-530, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29048419
17.
Corrigendum: Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis.
Genet Med
; 20(4): 474, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29632345
18.
Cognitive and Behavioral Consequences of Pediatric Delirium: A Pilot Study.
Pediatr Crit Care Med
; 19(10): e531-e537, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30059475
19.
Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis.
Genet Med
; 19(9): 983-988, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28383542
20.
Unmet Needs of Parents of Children with Urea Cycle Disorders.
Children (Basel)
; 9(5)2022 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35626889