Detalhe da pesquisa
1.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
J Med Genet
; 2022 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790351
2.
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Genet Med
; 22(6): 1108-1118, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32089546
3.
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
Mol Genet Metab
; 124(1): 82-86, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29550355
4.
Acetylcholinesterase inhibition in patients with orthostatic intolerance.
J Clin Neurophysiol
; 23(5): 476-81, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17016160
5.
Stability of acetylcholine chloride solution in autonomic testing.
J Neurol Sci
; 234(1-2): 1-3, 2005 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15993134
6.
A screen of candidate genes and influence of beta2-adrenergic receptor genotypes in postural tachycardia syndrome.
Auton Neurosci
; 120(1-2): 97-103, 2005 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15946904
7.
Prospective differentiation of multiple system atrophy from Parkinson disease, with and without autonomic failure.
Arch Neurol
; 66(6): 742-50, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19506134
8.
Assessment of the "common" 4.8-kb mitochondrial DNA deletion and identification of several closely related deletions in the dorsal root ganglion of aging and streptozotocin rats.
J Peripher Nerv Syst
; 7(2): 96-103, 2002 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12090301