Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis

ABSTRACT Molybdenum cofactor deficiency (MoCD) is an inborn error of metabolism included in the differential for refractory neonatal seizures. The prognosis is guarded, with a median reported age of death between 2.4 and 3.0 years. Mortality is primarily due to seizures and lower respiratory tract i...

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Principais autores:	Molly M. Crenshaw, Yasmeen Midgette, Shruthi Mohan, Ruhan Wei, Mariele Anneling, Monika Williams, Milap Patel, Benjamin T. Cocanougher, Sarah P. Young, Dmitriy Niyazov, Areeg El‐Gharbawy, Ashlee R. Stiles
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Wiley 2026-01-01
סדרה:	JIMD Reports
נושאים:	fosdenopterin molybdenum cofactor deficiency newborn screening S‐sulfocysteine
גישה מקוונת:	https://doi.org/10.1002/jmd2.70061
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!