Detalhe da pesquisa
1.
How to best handle vaccine decliners: scientific facts and psychological approach.
Postgrad Med J
; 98(1162): 626-632, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33837130
2.
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
3.
Previously undiagnosed scoliosis presenting as pleuritic chest pain in the emergency department - a case series and a validating retrospective audit.
BMC Emerg Med
; 21(1): 62, 2021 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34001003
4.
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Am J Med Genet C Semin Med Genet
; 184(3): 631-643, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32770643
5.
Exploratory Study to Evaluate Respiratory Rate Using a Thermal Imaging Camera.
Respiration
; 97(3): 205-212, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30605906
6.
Vitamin D intake, calcium intake and physical activity among children with wrist and ankle injuries and the association with fracture risk.
Nutr Health
; 25(2): 113-118, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30722726
7.
Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells.
Int J Mol Sci
; 20(18)2019 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31491876
8.
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Brain
; 140(6): 1595-1610, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28549128
9.
Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death.
Hum Mol Genet
; 24(23): 6640-52, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26376862
10.
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
Anal Chem
; 89(17): 8892-8900, 2017 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28782931
11.
Cerebellar and Midbrain Lysosomal Enzyme Deficiency in Isolated Dystonia.
Mov Disord
; 37(4): 875-877, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35080042
12.
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Mol Genet Metab
; 119(1-2): 160-7, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27553878
13.
The safety of emergency medicine.
Emerg Med J
; 33(4): 293-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26531857
14.
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI.
Anal Chem
; 87(24): 12238-44, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26537538
15.
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
Brain
; 136(Pt 10): 3096-105, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24022475
16.
Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots.
JIMD Rep
; 65(2): 124-131, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38444576
17.
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.
Ann Neurol
; 72(3): 455-63, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23034917
18.
Movement disorders in adult patients with classical galactosemia.
Mov Disord
; 28(6): 804-10, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23400815
19.
Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.
J Inherit Metab Dis
; 36(5): 869-72, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23151684
20.
Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases.
J Inherit Metab Dis
; 35(2): 311-6, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21687968