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...

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Detalles Bibliográficos
Autores principales: Cornelius, Leema P., Raju, Vivekasaravanan, Julin, Asir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Original Article
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

Internet

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

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