Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency

Lipin‐1 is a phosphatidic acid phosphohydrolase (EC 3.1.3.4) that catalyzes the dephosphorylation of phosphatidic acid to diacylglycerol and inorganic phosphate. Deficiency of this enzyme causes potentially fatal severe, recurrent episodes of rhabdomyolysis triggered by infection. The defect has onl...

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Detalles Bibliográficos
Autores principales: Stepien, Karolina M., Schmidt, Wolfgang M., Bittner, Reginald E., O'Toole, Orna, McNamara, Brian, Treacy, Eileen P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498837/
https://www.ncbi.nlm.nih.gov/pubmed/31240148
http://dx.doi.org/10.1002/jmd2.12016

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498837/
https://www.ncbi.nlm.nih.gov/pubmed/31240148
http://dx.doi.org/10.1002/jmd2.12016

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