Detalhe da pesquisa
1.
The Immunogenomic Landscape of Peripheral High-Dose IL-2 Pharmacodynamics in Patients with Metastatic Renal Cell Carcinoma: A Benchmark for Next-Generation IL-2-Based Immunotherapies.
J Immunol
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38767437
2.
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Brain
; 146(7): 3003-3013, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729635
3.
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Am J Hum Genet
; 106(2): 256-263, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004446
4.
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Genet Med
; 25(2): 100328, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36542086
5.
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
6.
Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period.
Prenat Diagn
; 43(12): 1567-1569, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964423
7.
Tuberous xanthoma secondary to homozygous familial hypercholesterolaemia: a life-threatening diagnosis.
Clin Exp Dermatol
; 47(12): 2336-2338, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36254377
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.
Microbiota regulate intestinal epithelial gene expression by suppressing the transcription factor Hepatocyte nuclear factor 4 alpha.
Genome Res
; 27(7): 1195-1206, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28385711
10.
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
11.
Commensal Bacteria Regulate Gene Expression and Differentiation in Vertebrate Olfactory Systems Through Transcription Factor REST.
Chem Senses
; 44(8): 615-630, 2019 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31403159
12.
Isolated aortic root dilation in homocystinuria.
J Inherit Metab Dis
; 41(1): 109-115, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28980096
13.
Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease.
Neuroradiology
; 60(12): 1353-1356, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30328501
14.
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
15.
How to use white blood cell enzyme assays.
Arch Dis Child Educ Pract Ed
; 102(3): 143-147, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27852635
16.
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
17.
Fifteen-minute consultation: Red flags for metabolic disease in routine bloods.
Arch Dis Child Educ Pract Ed
; 104(1): 16-19, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29779011
18.
Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study.
Drugs R D
; 24(1): 69-80, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38198106
19.
Wilms tumor gene on X chromosome (WTX) inhibits degradation of NRF2 protein through competitive binding to KEAP1 protein.
J Biol Chem
; 287(9): 6539-50, 2012 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-22215675
20.
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
J Med Genet
; 49(9): 569-77, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22972948