We used exome sequencing to identify the genetic basis of combined malonic and methylmalonic
aciduria (CMAMMA). We sequenced the exome of an individual with CMAMMA and …

Congenital heart disease (CHD) is the most common type of birth defect, and the etiology of
most cases is unknown. CHD often occurs in association with other birth malformations, and …

The overall understanding of the molecular etiologies of intellectual disability (ID) and
developmental delay (DD) is increasing as next-generation sequencing technologies identify …

Purpose The study aimed at widening the clinical and genetic spectrum and assessing
genotype–phenotype associations in FOXG1 syndrome due to FOXG1 variants. Methods We …

Dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) encodes a necessary subunit of the
cytoplasmic dynein complex, which traffics cargo along microtubules. Dominant DYNC1H1 …

Background: Isolated methylmalonic acidemia (MMA) is managed by dietary protein restriction
and medical food supplementation. Resting energy expenditure (REE) can be depressed …

BACKGROUND: Bilateral infarcts confined to the globus pallidus are unusual and occur in
conjunction with only a few disorders, including isolated methylmalonic acidemia, a …

Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge
on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, …

Asparagine‐linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly
conserved, X‐linked uridine diphosphate (UDP)‐N‐acetylglucosaminyltransferase required for …

Methylmalonic acidemia patients have complex rehabilitation needs that can be targeted to
optimize societal independence and quality of life. Thirty‐seven individuals with isolated …