Vivian Rodriguez Cruz

Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: l-arginine supplementation alternative to lysine-restricted diet

Saadet Mercimek‐Mahmutoglu, Dawn Cordeiro, Vivian Rodriguez Cruz et al. · European Journal of Paediatric Neurology · 2014 · 67 citations

Molecular Neuroscience, Lysine-restricted Diet, Pharmacology +5

Bit-1 is an essential regulator of myogenic differentiation

Genevieve S. Griffiths, Jinger Doe, Mayumi Jijiwa et al. · Journal of Cell Science · 2015 · 18 citations · Full text

PTRH2 gene mutation causes progressive congenital skeletal muscle pathology

Jinger Doe, Angela M. Kaindl, Mayumi Jijiwa et al. · Human Molecular Genetics · 2017 · 15 citations · Full text

Muscle Function, Ptrh2 Gene Mutation, Genetics +17

Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long‐term outcome

Fady Hannah‐Shmouni, Vivian Rodriguez Cruz, Andreas Schulze et al. · American Journal of Medical Genetics Part A · 2018 · 15 citations

Outcomes of patients with cobalamin C deficiency: A single center experience

Danielle K. Bourque, Lizbeth Mellin-Sanchez, Garrett Bullivant et al. · JIMD Reports · 2020 · 15 citations · Full text