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Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.

Molecular genetics and metabolism - 1 Nov 2013

Weisfeld-Adams James D, Bender H Allison, Miley-Åkerstedt Anna, Frempong Tamiesha, Schrager Nina L, Patel Keyur, Naidich Thomas P, Stein Victoria, Spat Jessica, Towns Stephanie, Wasserstein Melissa P, Peter Inga, Frank Yitzchak, Diaz George A

Abstract excerpt

Abnormal neurodevelopment has been widely reported in combined methylmalonic aciduria (MMA) and homocystinuria, cblC type (cblC disease), but neurodevelopmental phenotypes in cblC have not previously been systematically studied. We sought to further characterize developmental neurology in children with molecularly-confirmed cblC. Thirteen children at our center with cblC, born since implementation of expanded...

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Identifiers

PMID: 23954310
DOI: 10.1016/j.ymgme.2013.07.018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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