Soledad Kleppe

Citrin deficiency, a perplexing global disorder

David Dimmock, Bruno Maranda, Carlo Dionisi‐Vici et al. · Molecular Genetics and Metabolism · 2008 · 89 citations

Clinical Disorders, Disease Mechanism, Genetic Disorder +4

Long-Term Correction of Ornithine Transcarbamylase Deficiency by WPRE-Mediated Overexpression Using a Helper-Dependent Adenovirus

Asad Mian, William M. McCormack, Viraj Mane et al. · Molecular Therapy · 2004 · 58 citations · Full text

Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis

Abbhirami Rajagopal, Débora Braslavsky, James T. Lu et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 46 citations · Full text

A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria

Sandesh C.S. Nagamani, Oleg A. Shchelochkov, Mary A. Mullins et al. · Molecular Genetics and Metabolism · 2012 · 45 citations · Full text

Urology, Hepatology, Medicine +8

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes

Matthew S. Comeaux, Jing Wang, Guoli Wang et al. · Molecular Genetics and Metabolism · 2013 · 43 citations

Neurological Disorder, Physiology, Nutritional Neuroscience +9