Search Results - "Julca, Diana"

MAP1B related syndrome: Case presentation and review of literature by Julca, Diana M., Diaz, Jullianne, Berger, Seth, Leon, Eyby

“…The microtubule‐associated protein 1B (MAP1B) gene serves an important role in axonal growth and brain development. Its expression is known to be elevated in…”
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A case of SAH hydrolase deficiency confirmed with metabolomic testing and expansion of the phenotype by Jeshira, Francis, Santos, Reynoso, Keller, Kierstin, Julca, Diana, Mellor, Taelyr, Burfield, Jessica

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Newborn screening for MPS I - An update of the Washington, DC experience by Roshan Lal, Tamanna R., Grant, Christina, Crosby, Kathleen, Hicks, Rebecca, Viall, Sarah, Rivers, Bryana, Julca, Diana, Tanpaiboon, Pranoot

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Persistent EBV viremia in siblings with lysosomal acid lipase deficiency (LAL-D) by Grant, Christina L., Berger, Seth, Lal, Tamanna Roshan, Crosby, Kathleen, Hicks, Rebecca, Julca, Diana, Rivers, Bryana, Ferreira, Carlos, Tanpaiboon, Pranoot

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Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19 by Shur, Natasha, Atabaki, Shireen M., Kisling, Monisha S., Tabarani, Abir, Williams, Clarence, Fraser, Jamie L., Regier, Debra, Summar, Marshall

“…The national importance of telemedicine for safe and effective patient care has been highlighted by the current COVID‐19 pandemic. Prior to the 2020 pandemic…”
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