Zobrazeno 1 - 10
of 17
pro vyhledávání: '"N. A. Chamoles"'
Publikováno v:
Revista de neurologia. 43(4)
Fabry's disease is associated with acute neuropathic pain (NP). When six males with classic Fabry's disease ended three years of enzyme replacement therapy (ERT), studies were conducted to analyse the progression of the NP.All of them received 1 mg/k
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3d04e6961a915fc0f0c18d3338dc40ea
https://pubmed.ncbi.nlm.nih.gov/16883508
https://pubmed.ncbi.nlm.nih.gov/16883508
Autor:
J. E. Abdenur, N. A. Chamoles, N. Specola, A. B. Schenone, L. Jorge, A. Guinle, C. I. Bernard, V. Levandowskiy, S. Lavorgna
Publikováno v:
Current Views of Fatty Acid Oxidation and Ketogenesis ISBN: 9780306462009
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6882806f211db3fccd93eac6e1f8944
https://doi.org/10.1007/0-306-46818-2_41
https://doi.org/10.1007/0-306-46818-2_41
Publikováno v:
Clinical chemistry. 47(12)
Clinical differentiation among mucopolysaccharidosis, oligosaccharidosis, and mucolipidosis II and III is difficult. We describe methods for the assay of 8 lysosomal enzymes in dried blood spots on filter paper that allow screening for 12 lysosomal s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::df5b57d2ef316071a2250b77887cc162
https://pubmed.ncbi.nlm.nih.gov/11719472
https://pubmed.ncbi.nlm.nih.gov/11719472
Publikováno v:
Clinical chemistry. 47(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::08e5ab1f00cb8d191ef4247f29c365a2
https://pubmed.ncbi.nlm.nih.gov/11274042
https://pubmed.ncbi.nlm.nih.gov/11274042
Autor:
J E, Abdenur, N A, Chamoles, N, Specola, A B, Schenone, L, Jorge, A, Guinle, C I, Bernard, V, Levandowskiy, S, Lavorgna
Publikováno v:
Advances in experimental medicine and biology. 466
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::246d729e345eda7655578d5cdb422761
https://pubmed.ncbi.nlm.nih.gov/10709663
https://pubmed.ncbi.nlm.nih.gov/10709663
Autor:
N. A. Chamoles, Z. Sfaello, R. J. A. Wanders, Georg F. Hoffmann, C.A.J.M. Jakobs, Jaak Jaeken, Ubaldo Caruso, Willy Lehnert, Friedrich K. Trefz, Peter G. Barth, Gerbert A. Jansen, Marinus Duran, Jaap Valk, Hans-Peter Hartung, Folker Hanefeld, Ruud B.H. Schutgens
Publikováno v:
Journal of inherited metabolic disease, 16(4), 753-761. Springer Netherlands
L-2-Hydroxyglutaric acidaemia represents a newly defined inborn error of metabolism, with increased levels of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. The concentration in cerebrospinal fluid is higher than in plasma. The ot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea09cbec291136fefae7d6ad48a4a94b
https://pure.amc.nl/en/publications/l2hydroxyglutaric-acidaemia-clinical-and-biochemical-findings-in-12-patients-and-preliminary-report-on-l2hydroxyacid-dehydrogenase(e18c2d89-b40e-40aa-b3d0-6e6e8aa20e19).html
https://pure.amc.nl/en/publications/l2hydroxyglutaric-acidaemia-clinical-and-biochemical-findings-in-12-patients-and-preliminary-report-on-l2hydroxyacid-dehydrogenase(e18c2d89-b40e-40aa-b3d0-6e6e8aa20e19).html
Publikováno v:
Genetics in Medicine. 2:104
The Lesch-Nyhan (LN) disease is a genetic disorder of purine metabolism caused by defective activity of the enzyme Hypoxanthineguanine PhosphoRibosyl Transferase (HPRT). Affected individuals have a striking phenotype characterized by hyperuricemia an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a8cd92189e1a20dafdad8dffd675bc1c
https://doi.org/10.1097/00125817-200001000-00192
https://doi.org/10.1097/00125817-200001000-00192
Autor:
M, Larralde de Luna, R, García Díaz, G, Sánchez, R, Ilari, A M, Pierini, C, Campoy, N H, Chamoles
Publikováno v:
Medicina cutanea ibero-latino-americana. 13(2)
Fabry's disease (angiokeratoma corporis diffusum) is an X-linked recessive inherited metabolic defect due to the lack of the enzyme alpha-galactosidase A. We reviewed the Argentine literature on the subject, the main features of the disease and its d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5e568854ed60ccf3b533106b98711ff5
https://pubmed.ncbi.nlm.nih.gov/2995736
https://pubmed.ncbi.nlm.nih.gov/2995736
Publikováno v:
Journal of the neurological sciences. 14(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9a919017059397cb645834373ba7fdfa
https://pubmed.ncbi.nlm.nih.gov/5125759
https://pubmed.ncbi.nlm.nih.gov/5125759
Autor:
Drelichman GI; Unidad de Hematología, Hospital de Niños 'Ricardo Gutiérrez', Ciudad Autónoma de Buenos Aires, Argentina., Fernández Escobar N; Unidad de Hematología, Hospital de Niños 'Ricardo Gutiérrez', Ciudad Autónoma de Buenos Aires, Argentina., Soberon BC; Unidad de Hematología, Hospital de Niños 'Ricardo Gutiérrez', Ciudad Autónoma de Buenos Aires, Argentina., Basack NF; Unidad de Hematología, Hospital de Niños 'Ricardo Gutiérrez', Ciudad Autónoma de Buenos Aires, Argentina., Frabasil J; Laboratorio de Neuroquímica 'Dr. N. A. Chamoles', Ciudad Autónoma de Buenos Aires, Argentina., Schenone AB; Laboratorio de Neuroquímica 'Dr. N. A. Chamoles', Ciudad Autónoma de Buenos Aires, Argentina., Aguilar G; Centro de Diagnóstico Dr. Rossi, Ciudad Autónoma de Buenos Aires, Argentina., Larroudé MS; Centro de Diagnóstico Dr. Rossi, Ciudad Autónoma de Buenos Aires, Argentina., Knight JR; Yale University Center for Genome Analysis, Yale School of Medicine, New Haven, CT, United States., Zhao D; Yale University Center for Genome Analysis, Yale School of Medicine, New Haven, CT, United States., Ruan J; Department of Internal Medicine, Yale School of Medicine, New Haven, CT. United States., Mistry PK; Department of Internal Medicine, Yale School of Medicine, New Haven, CT. United States.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Nov 11; Vol. 29, pp. 100820. Date of Electronic Publication: 2021 Nov 11 (Print Publication: 2021).