Associated Papers
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
Mütze U et al.
Journal of Inherited Metabolic Disease, 2023
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
Mütze U et al.
Journal of Inherited Metabolic Disease, 2021
Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria.
Szymańska E et al.
Diagnostics (basel, Switzerland), 2020
Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.
Hertecant JL et al.
European Journal of Medical Genetics, 2012
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