Mariana Blanco
Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia(AR)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Trypanosoma species research and implications, Carbohydrate Chemistry and Synthesis, Glycogen Storage Diseases and Myoclonus, Glycosylation and Glycoproteins Research
Most-Cited Works
- → Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper(2004)182 cited
- → Hurler-like Phenotype(2001)139 cited
- → Gaucher and Niemann–Pick diseases—enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards(2002)137 cited
- → Diagnosis of α-l-Iduronidase Deficiency in Dried Blood Spots on Filter Paper: The Possibility of Newborn Diagnosis(2001)105 cited
- → Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards(2002)73 cited
- → Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients(2009)44 cited
- → Mutation analysis of Gaucher disease patients from Argentina: High prevalence of the RecNciI mutation(1998)43 cited
- → Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux–Lamy syndrome) patients, including 9 novel mutations(2007)34 cited
- → Rapid diagnostic testing procedures for lysosomal storage disorders: α-glucosidase and β-galactosidase assays on dried blood spots(2008)29 cited
- → Retrospective Diagnosis of GM1 Gangliosidosis by Use of a Newborn-Screening Card(2001)27 cited