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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
Lilian Mendes Ferreira Urbano1, Isabel Irene Ramos Leal, Izelda Maria Carvalho Costa
1University Hospital of Brasilia – University of Brasilia (HuB-UnB) – Brasilia (DF), Brazil. lilianmfe@hotmail.com
Goltz syndrome is a rare X-linked dominant genetic disorder, primarily affecting females and often causing male fetal miscarriage. Diagnosis involves diverse clinical, radiological, and histopathological findings, with treatment focused on improving quality of life.
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