Detalhe da pesquisa
1.
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
2.
Treatment of AICA ribosiduria by suppression of de novo purine synthesis.
Mol Genet Metab
; 141(3): 108124, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38244287
3.
Group-specific cellular metabolism in Medulloblastoma.
J Transl Med
; 21(1): 363, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37277823
4.
Pathogenic Relationships in Cystic Fibrosis and Renal Diseases: CFTR, SLC26A9 and Anoctamins.
Int J Mol Sci
; 24(17)2023 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37686084
5.
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Am J Hum Genet
; 104(2): 203-212, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30612693
6.
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genet Med
; 24(6): 1227-1237, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35300924
7.
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Mov Disord
; 37(1): 137-147, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34596301
8.
A mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy.
Am J Med Genet A
; 188(3): 941-947, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34874093
9.
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.
J Inherit Metab Dis
; 45(3): 445-455, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35174513
10.
TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms.
J Med Genet
; 58(3): 213-216, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32332102
11.
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents.
J Med Genet
; 58(4): 247-253, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32487539
12.
Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
Am J Med Genet A
; 185(3): 930-936, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369099
13.
Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patient.
Liver Int
; 41(10): 2427-2432, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34358398
14.
3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism.
J Inherit Metab Dis
; 44(6): 1323-1329, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176136
15.
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
J Inherit Metab Dis
; 44(3): 629-638, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33274439
16.
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
J Inherit Metab Dis
; 44(4): 857-870, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33496032
17.
Uridine Treatment of the First Known Case of SLC25A36 Deficiency.
Int J Mol Sci
; 22(18)2021 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34576089
18.
Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing.
Clin Immunol
; 221: 108599, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32992000
19.
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
Mol Genet Metab
; 131(4): 405-417, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257258
20.
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Mol Genet Metab
; 129(4): 292-302, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32033912