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Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
Kohan R, Carabelos MN, Xin W, Sims K, Guelbert N, Cismondi IA, Pons P, Alonso GI, Troncoso M, Witting S, Pearce DA, Dodelson de Kremer R, Oller-Ramírez AM, Noher de Halac I. Kohan R, et al. Among authors: dodelson de kremer r. Gene. 2013 Mar 1;516(1):114-21. doi: 10.1016/j.gene.2012.12.058. Epub 2012 Dec 22. Gene. 2013. PMID: 23266810 Free PMC article.
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.
Angaroni CJ, Giner-Ayala AN, Hill LP, Guelbert NB, Paschini-Capra AE, Dodelson de Kremer R. Angaroni CJ, et al. Among authors: dodelson de kremer r. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S289-94. doi: 10.1007/s10545-010-9139-x. Epub 2010 Jun 8. J Inherit Metab Dis. 2010. PMID: 20532819
[Juvenile form of Sandhoff disease: first case reported in Argentina].
Mugnaini J, Pereyra M, Dodelson de Kremer R, Gamboni B, Argaraña CE, Oller Ramírez AM. Mugnaini J, et al. Among authors: dodelson de kremer r. Arch Argent Pediatr. 2017 Oct 1;115(5):e298-e301. doi: 10.5546/aap.2017.e298. Arch Argent Pediatr. 2017. PMID: 28895707 Free article. Spanish.
25 results