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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
A Alakeel1, C Raynaud2, M Rossi3
1Dermatologie pédiatrique, service de pédiatrie-pneumologie, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69677 Bron cedex, France.
Allgrove syndrome, a rare genetic disorder, presents with adrenal insufficiency, achalasia, and alacrima. This case highlights its dermatological discovery, emphasizing the need for broader diagnostic awareness.
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