Publications by authors named "Heidelis Tichy"
Article Synopsis
- An infant diagnosed with biliary atresia had unexpectedly low serum gamma-glutamyltranspeptidase (GGT) levels, which are usually elevated in this condition.
- This low-GGT cholestasis is linked to worse health outcomes, although the exact reasons for it are still unclear.
- Despite testing showing no genetic variants related to other poor prognosis disorders, the patient remains stable at 14 months, prompting recommendations for further genetic investigations in similar cases.
Valosin-containing protein (VCP) is an AAA+ ATPase that plays critical roles in multiple ubiquitin-dependent cellular processes. Dominant pathogenic variants in VCP are associated with adult-onset multisystem proteinopathy (MSP), which manifests as myopathy, bone disease, dementia, and/or motor neuron disease. Through GeneMatcher, we identified 13 unrelated individuals who harbor heterozygous VCP variants (12 de novo and 1 inherited) associated with a childhood-onset disorder characterized by developmental delay, intellectual disability, hypotonia, and macrocephaly.
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