Heather Saavedra

Gastrostomy Tube-Related Complaints in the Pediatric Emergency Department

Heather Saavedra, Joseph D. Losek, Leticia A. Shanley et al. · Pediatric Emergency Care · 2009 · 52 citations

Medicine, Clinical Sciences, Pediatrics +15

Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism

Claudia Soler‐Alfonso, Gregory M. Enns, Mary Kay Koenig et al. · Pediatric Neurology · 2014 · 33 citations

Life Sciences, Genetics, Molecular Genetics +11

Safety and Efficacy of <scp>DTX401</scp> , an <scp>AAV8</scp> ‐Mediated Liver‐Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a ( <scp>GSDIa</scp> )

David A. Weinstein, Terry G. J. Derks, David Rodriguez‐Buritica et al. · Journal of Inherited Metabolic Disease · 2025 · 21 citations · Full text

Medicine, Endocrinology, Molecular Medicine +17

Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics

Darius J. Adams, Hans C. Andersson, Heather Bausell et al. · Molecular Genetics and Metabolism Reports · 2021 · 16 citations · Full text

Pharmacy, Pharmacology, Pharmacotherapy +10

The youngest pair of siblings with Mucopolysaccharidosis type <scp>IVA</scp> to receive enzyme replacement therapy to date: A case report

Marta Frigeni, David Rodriguez‐Buritica, Heather Saavedra et al. · American Journal of Medical Genetics Part A · 2021 · 12 citations

Life Sciences, Genetics, Pediatrics +16