Prenatal diagnosis of methymalonic aciduria and homocystinuria cblC type using DNA analysis

Prenatal diagnosis of methymalonic aciduria and homocystinuria cblC type using DNA analysis

Methylmalonic aciduria (MMA) and homocystinuria, cblC type is the most frequent inborn error of vitamin B12. CblC patients present with a heterogeneous clinical picture. To date, the early prenatal diagnosis of MMA and homocystinuria, cblC type is performed by determination of methylmalonic acid and...

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Bibliographic Details
Main Authors: Antonietta Zappu, Simona Incollu, Francesca Chiappe, Maria Barbara Lepori, Georgios Loudianos
Format: Article
Language:English
Published: Hygeia Press di Corridori Marinella 2015-12-01
Series:Journal of Pediatric and Neonatal Individualized Medicine
Subjects:
gene
dna
treatment
metabolism
rare
villus
Online Access:https://www.jpnim.com/index.php/jpnim/article/view/285

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https://www.jpnim.com/index.php/jpnim/article/view/285

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