about
Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stabilityAttenuated variants of Lesch-Nyhan diseaseSequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patientsTwo Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection.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.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.Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene.
P50
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P50
name
Raquel Dodelson de Kremer
@ast
Raquel Dodelson de Kremer
@en
Raquel Dodelson de Kremer
@nl
type
label
Raquel Dodelson de Kremer
@ast
Raquel Dodelson de Kremer
@en
Raquel Dodelson de Kremer
@nl
prefLabel
Raquel Dodelson de Kremer
@ast
Raquel Dodelson de Kremer
@en
Raquel Dodelson de Kremer
@nl