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Pediatric Glutaric Aciduria Type 1: 14 Cases, Diagnosis and Management
INTRODUCTION: Glutaric aciduria type I is an autosomal recessive disorder of lysine metabolism due to the defect of the enzyme glutaryl-CoA dehydrogenase. The regression of milestones following an intercurrent infection with disabling dystonia is the common presentation. We report the clinical featu...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8061498/ https://www.ncbi.nlm.nih.gov/pubmed/33911375 http://dx.doi.org/10.4103/aian.AIAN_42_20 |