M. Blanco

发表

Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients

B. Cormand, N. Chamoles, D. Grinberg, 2003, Human Genetics.

Fabry disease: enzymatic diagnosis in dried blood spots on filter paper.

N. Chamoles, M. Blanco, D. Gaggioli, 2001, Clinica chimica acta; international journal of clinical chemistry.

Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America

D. Grinberg, A. Chabás, R. Santamaría, 2007, Clinical genetics.

Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.

N. Chamoles, M. Blanco, D. Gaggioli, 2002, Clinica chimica acta; international journal of clinical chemistry.

Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.

N. Chamoles, M. Blanco, D. Gaggioli, 2002, Clinica chimica acta; international journal of clinical chemistry.

Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis.

N. Chamoles, M. Blanco, D. Gaggioli, 2001, Clinical chemistry.

Vertebrobasilar Dolichoectasia in Fabry Disease The Earliest Marker of Neurovascular Involvement

J. Politei, A. Schenone, A. Burlina, 2014 .

Retrospective diagnosis of glycogen storage disease type II by use of a newborn-screening card.

N. Chamoles, C. Aranda, M. Blanco, 2005, Clinica chimica acta; international journal of clinical chemistry.

[Mucopolysaccharidosis type VI: clinical aspects, diagnosis and treatment with enzyme replacement therapy].

J. Politei, A. Schenone, M. Szlago, 2014, Archivos argentinos de pediatria.

Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper.

N. Chamoles, M. Blanco, D. Gaggioli, 2001, Clinical chemistry.

Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.

K. Vlahovicek, B. Bembi, A. Schenone, 2012, Gene.

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

D. Cooper, T. Beccari, C. Rosano, 2009, Human mutation.

Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.

N. Chamoles, D. Grinberg, A. Chabás, 2005, Molecular genetics and metabolism.

Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.

N. Chamoles, M. Blanco, Néstor A Chamoles, 2004, Clinica chimica acta; international journal of clinical chemistry.

Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.

B. Cormand, N. Chamoles, L. Gort, 1998, American journal of medical genetics.

Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots.

R. Tomanin, A. Frigo, F. Zacchello, 2009, Clinica chimica acta; international journal of clinical chemistry.

Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.

B. Cormand, C. Domínguez, D. Grinberg, 2007, Molecular genetics and metabolism.

A systematic review of common genetic variation and biological pathways in autism spectrum disorder

M. Blanco, Jesús David Charry-Sánchez, C. Talero-Gutiérrez, 2021, BMC neuroscience.

Pompe disease (glycogen storage disease type II) in Argentineans: Clinical manifestations and identification of 9 novel mutations

N. Chamoles, R. Pomponio, M. Blanco, 2007, Neuromuscular Disorders.