Jaime López‐Valdez

The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII

Raymond Wang, José Francisco da Silva Franco, Jaime López‐Valdez et al. · Molecular Genetics and Metabolism · 2020 · 35 citations · Full text

Life Sciences, Pharmacotherapy, Immunopathology +13

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

Davor Lessel, Ayse Bilge Ozel, Susan Campbell et al. · Human Genetics · 2018 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants

Angélica Saldaña‐Martínez, Marı́a de Lourdes Muñoz, Gerardo Pérez‐Ramírez et al. · Gene · 2018 · 24 citations

Life Sciences, Genetics, Molecular Genetics +16

ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA

D. Bahena-Bahena, Jaime López‐Valdez, Kimiyo Raymond et al. · Molecular Genetics and Metabolism Reports · 2014 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Analysis of the <i><scp>KRT</scp>9</i> Gene in a Mexican Family with Epidermolytic Palmoplantar Keratoderma

Jaime López‐Valdez, M.R. Rivera‐Vega, Luz María González-Huerta et al. · Pediatric Dermatology · 2012 · 10 citations

Life Sciences, Dermatology, Genetics +10