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List of works by Raquel Dodelson de Kremer

Attenuated variants of Lesch-Nyhan disease

scientific article

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

scientific article

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

scientific article published on 8 June 2010

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria

scientific article

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

scientific article

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

scientific article published on 21 February 2006

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

scientific article published on 26 February 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 ⬇️

scientific article published on December 22, 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

scientific article published in May 2005

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

scientific article

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

scientific article published on 15 June 2010

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

scientific article

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

scientific article

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