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
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
Inglês
| MEDLINE | ID: mdl-38244287
3.
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.
Brain
; 145(3): 872-878, 2022 04 29.
Artigo
Inglês
| MEDLINE | ID: mdl-34788402
4.
Pathogenic Relationships in Cystic Fibrosis and Renal Diseases: CFTR, SLC26A9 and Anoctamins.
Int J Mol Sci
; 24(17)2023 Aug 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37686084
5.
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents.
J Med Genet
; 58(4): 247-253, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32487539
6.
N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
J Inherit Metab Dis
; 43(6): 1370-1381, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32852845
7.
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
Brain
; 142(8): 2230-2237, 2019 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31332433
8.
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Am J Hum Genet
; 97(6): 894-903, 2015 Dec 03.
Artigo
Inglês
| MEDLINE | ID: mdl-26637979
9.
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.
Genet Med
; 20(2): 259-268, 2018 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-28749473
10.
Reply: Not every excessive startle is hyperekplexia, the curious case of SOD1.
Brain
; 143(2): e12, 2020 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31960041
11.
It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test.
Alcohol Alcohol
; 51(2): 148-53, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26333807
12.
Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype.
Mol Genet Metab Rep
; 38: 101038, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38178812
13.
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Sci Transl Med
; 16(741): eadg2841, 2024 Apr 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38569017
14.
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1.
Brain Commun
; 5(1): fcad017, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36793789
15.
Treatment Options in Congenital Disorders of Glycosylation.
Front Genet
; 12: 735348, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34567084
16.
Mannose supplementation in PMM2-CDG.
Orphanet J Rare Dis
; 16(1): 359, 2021 08 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34380532
17.
Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine.
Mol Genet Metab Rep
; 24: 100620, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32685378
18.
L-Fucose treatment of FUT8-CDG.
Mol Genet Metab Rep
; 25: 100680, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33312876
19.
The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation.
Sci Rep
; 10(1): 13162, 2020 08 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32753748
20.
Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples.
J Chromatogr B Analyt Technol Biomed Life Sci
; 1106-1107: 64-70, 2019 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30641270