Rebecca D. Ganetzky

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Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over 100 genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 mannosyltransferase that catalyzes the addition of the first of nine mannose moieties to form a dolichol-lipid linked oligosaccharide intermediate required for proper N-linked glycosylation.(More)
Mitochondrial short-chain enoyl-CoA hydratase deficiency (ECHS1D) is caused by mutations in ECHS1 (OMIM 602292) and is a recently identified inborn error of valine and fatty acid metabolism. This defect leads to secondary mitochondrial dysfunction. The majority of previously reported patients had the Leigh syndrome, with a median life expectancy of(More)
Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and microcephaly. Less(More)
BACKGROUND A breast cancer (BC) history was elicited more frequently than expected among thyroid operation patients, which prompted an investigation of risks for concurrent or subsequent nonendocrine malignancies. METHODS Of 94,939 patients at a tertiary referral center with breast, thyroid, or parathyroid disease from 2000 to 2006, those patients with(More)
Women represent approximately half of students entering medical schools and more than half of those entering PhD programs. When advancing through the academic and professional fields, however, women continually face barriers that men do not. In this Commentary, the authors offer ideas for coordinating the efforts of organizations, academic institutions, and(More)
Because the concept of program correctness is generally taught as an activity independent of the programming process, most introductory computer science (CS) students perceive it as unnecessary and even irrelevant. The concept of contracts, on the other hand, is generally taught as an integral part of the programming process. As such, most introductory CS(More)
IMPORTANCE Mitochondrial disease is being diagnosed with increasing frequency. Although children with mitochondrial disease often have severe, life-limiting illnesses, many survive into adulthood. There is, however, limited information about the impact of mitochondrial disease on healthcare utilization in the U.S. across the lifespan. OBJECTIVES To(More)
In an attempt to better integrate discrete mathematics into the introductory CS curriculum, we implemented ProVIDE, an enhanced integrated development environment (IDE) for Java that enables students to analyze their computer programs (in terms of their correctness) while they are creating them [1]. The primary goal of the construction of ProVIDE is the(More)
Limb body wall complex (LBWC) and amniotic band sequence (ABS) are multiple congenital anomaly conditions with craniofacial, limb, and ventral wall defects. LBWC and ABS are considered separate entities by some, and a continuum of severity of the same condition by others. The etiology of LBWC/ABS remains unknown and multiple hypotheses have been proposed.(More)
The coexistence of two or more distinct genetic conditions is known to be a rare phenomenon. Full chromosome aneuploidies can be associated with a broad variety of cytogenetic abnormalities or single gene disorders resulting in phenotypic modifications that confuse the diagnostic process. We present six patients with primary aneuploidies and a suspected or(More)