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Attenuated variants of Lesch-Nyhan disease

artículo científico publicado en 2010

Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster

artículo científico publicado en 2009

Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook

artículo científico publicado en 2010

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria

artículo científico publicado en 2010

Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability

artículo científico publicado en 2004

Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene

artículo científico publicado en 2006

Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection

artículo científico publicado en 2012

Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America

artículo científico publicado en 2012

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

artículo científico publicado en 2005

Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants

artículo científico publicado en 2012

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America

artículo científico publicado en 2010

Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

artículo científico publicado en 2011

X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients

artículo científico publicado en 2012

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