Detalhe da pesquisa
1.
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
Biochim Biophys Acta
; 1852(10 Pt B): 2301-11, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25976102
2.
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.
Biochim Biophys Acta
; 1852(10 Pt B): 2316-23, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26117801
3.
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
4.
Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease.
Pediatr Neurol
; 154: 51-57, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531163
5.
Enfermedad CLN8 congénita de lipofuscinosis neuronal ceroidea: un nuevo fenotipo / Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype
Rev. neurol. (Ed. impr.)
; 68(4): 155-159, 16 feb., 2019. tab, ilus, graf
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-180706
6.
Gerstmann-Sträussler-Scheinker syndrome with variable phenotype in a new kindred with PRNP-P102L mutation.
Brain Pathol
; 24(2): 142-7, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23944754
7.
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
Gene
; 516(1): 114-21, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23266810
8.
Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile (CLN1) and late infantile (CLN2) neuronal ceroid lipofuscinoses.
Clin Biochem
; 38(5): 492-4, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15820783
9.
Morphogenesis in short-term and long-term anther derived calli of Oenothera hookeri de vries
Biocell
; 24(3): 239-246, Dec. 2000.
Artigo
em Inglês
| BINACIS | ID: bin-6425
10.
Morphogenesis in short-term and long-term anther derived calli of Oenothera hookeri de vries
Biocell
; 24(3): 239-246, Dec. 2000.
Artigo
em Inglês
| LILACS | ID: lil-335893