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Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

✍ Scribed by Tort, Frederic; García-Silva, María Teresa; Ferrer-Cortès, Xènia; Navarro-Sastre, Aleix; Garcia-Villoria, Judith; Coll, Maria Josep; Vidal, Enrique; Jiménez-Almazán, Jorge; Dopazo, Joaquín; Briones, Paz; Elpeleg, Orly; Ribes, Antonia


Book ID
120383402
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
578 KB
Volume
110
Category
Article
ISSN
1096-7192

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Persistent excretion of 3-methylglutaconic acid was found in a 6-month-old infant with multiple minor physical malformations and delayed development. During two episodes of intercurrent viral illness, the patient developed severe metabolic acidosis and excreted large amounts of lactate, 3-hydroxybut