Compound heterozygous TRMU gene mutations in an infant with transient cholestasis and hyperlactatemia

The authors present an atypical case of an infant with unremarkable familiar, birth, and neonatal history who developed a mild/benign form of transient cholestasis. At admission, second- and third-level assessments were conducted, mitochondrial respiratory chain disorders were ex­cluded. The patient...

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Hlavní autoři:	Barbara Parma, Serena Motta, Erika S. Apuril Velgara, Angelo Selicorni, Lisa Licini, Maurizio Cheli, Lorenzo D'Antiga, Maria Iascone, Emanuele Nicastro, Serena Gasperini
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Hygeia Press di Corridori Marinella 2024-02-01
Edice:	Journal of Pediatric and Neonatal Individualized Medicine
Témata:	infant cholestasis genetic trmu mutation prognosis
On-line přístup:	https://jpnim.com/index.php/jpnim/article/view/1243
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