Soledad Kleppe

Hospital Italiano de Buenos Aires — Argentina

Biochemistry, Genetics and Molecular Biology · Life Sciences

11h-index775citations18works5.52yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Metabolism and Genetic Disorders(10), Biochemical and Molecular Research(3), Genomic variations and chromosomal abnormalities(2), Genomics and Rare Diseases(2), Genetics and Neurodevelopmental Disorders(2)

Publications17 total

Design of a Phase 3 study of AAV-mediated gene transfer of ornithine transcarbamylase (OTC) in patients with late-onset OTC deficiency
Molecular Genetics and Metabolism·2024Open Access
Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America
Genes·2024· 11 citedOpen Access
Monochorionic twin pregnancy from the perspective of the theory of complexity
Archivos Argentinos de Pediatria·2023· 1 citedOpen Access
Expansion of the clinical and molecular spectrum of <i>WWOX</i>‐related epileptic encephalopathy
American Journal of Medical Genetics Part A·2022· 6 cited
Recommendations on the initial management of acute hyperammonemia in pediatrics
Archivos Argentinos de Pediatria·2022Open Access
Errores congénitos del metabolismo y neuropsiquiatría: revisión bibliográfica a propósito de un caso
Psiquiatría Biológica·2021
Reanalysis of Clinical Exome Sequencing Data
New England Journal of Medicine·2019· 283 citedOpen Access
Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis
The Journal of Clinical Endocrinology & Metabolism·2014· 46 citedOpen Access
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes
Molecular Genetics and Metabolism·2013· 43 cited
A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria
Molecular Genetics and Metabolism·2012· 45 citedOpen Access
Citrin deficiency, a perplexing global disorder
Molecular Genetics and Metabolism·2008· 89 cited
Findings in LRP2 mutation positive versus LRP2 mutation negative cases referred for DBS
2008
Ethical and Legal Implications of Genetic Testing in Androgen Insensitivity Syndrome
The Journal of Pediatrics·2007· 17 cited
Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase
Human Genetics·2005· 35 cited
Clinical Consequences of Urea Cycle Enzyme Deficiencies and Potential Links to Arginine and Nitric Oxide Metabolism
Journal of Nutrition·2004· 85 cited
Long-Term Correction of Ornithine Transcarbamylase Deficiency by WPRE-Mediated Overexpression Using a Helper-Dependent Adenovirus
Molecular Therapy·2004· 58 citedOpen Access
Urea cycle disorders
Current Treatment Options in Neurology·2003· 26 cited

Frequent Co-authors

Fernando Scaglia(5), Brendan Lee(4), William E. O’Brien(3), Pengfei Liu(2), Jill A. Rosenfeld(2), Weimin Bi(2), Xia Wang(2), Jie Dong(2), Karen W. Gripp(2), V. Reid Sutton(2), Arthur L. Beaudet(2), Richard A. Gibbs(2), Juan C. Marini(2), Susan Carter(2), Asad Mian(2), Qin Sun(2), Norberto Guelbert(2), Linyan Meng(1), Elizabeth A. Normand(1), Fan Xia(1)