A case of hyperlysinemia identified by urine newborn screening

Hyperlysinemia is a rare autosomal recessive deficiency of 2‐aminoadipic semialdehyde synthase (AASS) affecting the initial step in lysine degradation. It is thought to be a benign biochemical abnormality, but reports on cases remain scarce. The description of additional cases, in particular, those...

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Detalles Bibliográficos
Autores principales: Yeganeh, Mehdi, Auray‐Blais, Christiane, Maranda, Bruno, Sabovic, Amanda, DeVita, Robert J., Lazarus, Michael B., Houten, Sander M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623103/
https://www.ncbi.nlm.nih.gov/pubmed/37927488
http://dx.doi.org/10.1002/jmd2.12399

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623103/
https://www.ncbi.nlm.nih.gov/pubmed/37927488
http://dx.doi.org/10.1002/jmd2.12399

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