Researcher profile · Semantic Scholar

Soledad Kleppe

h-index: 10
Works: 16
Citations: 665

Most-cited papers

Reanalysis of Clinical Exome Sequencing Data
Peng-Fei Liu, Linyan Meng, Elizabeth A. Normand, F. Xia +48 more
2019New England Journal of Medicine245 citations Open access
Semantic Scholar
Citrin deficiency, a perplexing global disorder.
D. Dimmock, B. Maranda, C. Dionisi-Vici, Jing Wang +8 more
2009Molecular Genetics and Metabolism90 citations
Semantic Scholar
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.
F. Scaglia, N. Brunetti-Pierri, Soledad Kleppe, J. Marini +5 more
2004Journal of NutriLife89 citations Open access
Semantic Scholar
Long-term correction of ornithine transcarbamylase deficiency by WPRE-mediated overexpression using a helper-dependent adenovirus.
Asad I Mian, W. Mccormack, V. Mane, Soledad Kleppe +6 more
2004Molecular Therapy65 citations Open access
Semantic Scholar
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
Matthew S. Comeaux, Jing Wang, Guo-Li Wang, Soledad Kleppe +6 more
2013Molecular Genetics and Metabolism38 citations
Semantic Scholar
A Randomized Controlled Trial to Evaluate the Effects of High-Dose versus Low-Dose of Arginine Therapy on Hepatic Function Tests in Argininosuccinic Aciduria
S. Nagamani, O. Shchelochkov, M. A. Mullins, Susan Carter +7 more
2012Molecular Genetics and Metabolism38 citations Open access
Semantic Scholar
Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
A. Rajagopal, D. Braslavsky, James T. Lu, Soledad Kleppe +9 more
2014Journal of Clinical Endocrinology and Metabolism36 citations Open access
Semantic Scholar
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
S. Leimkühler, M. Charcosset, P. Latour, C. Dorche +6 more
2005Human Genetics30 citations
Semantic Scholar
Ethical and legal implications of genetic testing in androgen insensitivity syndrome.
J. Berg, Shannon French, L. McCullough, Soledad Kleppe +3 more
2007Jornal de Pediatria15 citations
Semantic Scholar
Urea cycle disorders
Soledad Kleppe, Asad I Mian, Brendan H. Lee
2003Current Treatment Options in Neurology11 citations
Semantic Scholar
Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy
S. Chong, Ye Cao, E. Fung, Soledad Kleppe +15 more
2022American Journal of Medical Genetics. Part A6 citations
Semantic Scholar
Multiple ischaemic strokes and encephalopathy in a patient with CADASIL and COVID-19: A complex association
M. V. Giménez, Marianela López Armaretti, S. Bauque, J. Blanco +2 more
2022Neurology Perspectives4 citations Open access
Semantic Scholar
Recommendations on the initial management of acute hyperammonemia in pediatrics.
H. Eiroa, C. Durand, M. Szlago, Marcela Pereyra +4 more
2022Archivos Argentinos de Pediatria2 citations Open access
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Design of a Phase 3 study of AAV-mediated gene transfer of ornithine transcarbamylase (OTC) in patients with late-onset OTC deficiency
Laura Konczal, Joshua Baker, M. Wagenmakers, J. Arnoux +11 more
2024Molecular Genetics and Metabolism0 citations Open access
Semantic Scholar
Errores congénitos del metabolismo y neuropsiquiatría: revisión bibliográfica a propósito de un caso
M. Badía, Tomás Abudarham, Soledad Kleppe, Sebastián Malleza +2 more
2021Psiquiatría Biológica0 citations
Semantic Scholar
Consequences of Urea Cycle Enzyme Deficiencies and Potential Links to Arginine and Nitric Oxide Metabolism 1 , 2
F. Scaglia, N. Brunetti-Pierri, Soledad Kleppe, J. Marini +5 more
20040 citations
Semantic Scholar

Peng-Fei Liu

×2

J. Rosenfeld×2

W. Bi×2

Xia Wang×2

Jie Dong×2

K. Gripp×2

V. Sutton×2

R. Gibbs×2