Continuation of pegvaliase treatment during pregnancy: A case report
Boyer, Monica, Skaar, Janette, Sowa, Mary, Tureson, Justin R., Chapel-Crespo, Cristel C., Chang, Richard
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Journal Article
Skin lesions in a patient with Cobalamin C disease in poor metabolic control
Prasun, Pankaj, Chapel-Crespo, Cristel, Williamson, Amy, Chu, Paul, Oishi, Kimihiko, Diaz, George
Published in Journal of inherited metabolic disease (01.03.2018)
Published in Journal of inherited metabolic disease (01.03.2018)
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Journal Article
360 Retrospective Evaluation of Whole-Exome Sequencing in Puerto Ricans with Neurogenetic Complex Traits
Albino, Elinette, Carlo, Simon, Chapel-Crespo, Cristel, Santiago-Cornier, Alberto, Buxo, Carmen
Published in Journal of clinical and translational science (01.04.2022)
Published in Journal of clinical and translational science (01.04.2022)
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Journal Article
323 Perceived Stress and Access to Care in Parents of Children Living a Diagnostic Odyssey in Puerto Rico
Albino, Elinette M, Martinez, Karen, Carlo, Simon, Chapel-Crespo, Cristel, Ortiz, Antonio, Santiago-Cornier, Alberto, Velez-Bartolomei, Frances, Buxo, Carmen
Published in Journal of clinical and translational science (01.04.2023)
Published in Journal of clinical and translational science (01.04.2023)
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Journal Article
Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency
Chapel-Crespo, Cristel C., Villalba, Ricardo, Wang, Raymond, Boyer, Monica, Chang, Richard, Waterham, Hans R., Abdenur, Jose E.
Published in Molecular genetics and metabolism reports (01.09.2020)
Published in Molecular genetics and metabolism reports (01.09.2020)
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Journal Article
A NEW CASE OF SFXN4 (SIDEROFLEXIN-4): NOVEL MUTATION AND FURTHER EVIDENCE OF MITOCHONDRIAL DYSFUNCTION IN FIBROBLASTS
Huang, Wei-Lin, Chapel-Crespo, Cristel C., Bressi, Rebekah, Simon, Mariella T., Stover, Alexander, Nguyen, Daniel, Schwartz, Philip, Abdenur, Jose E.
Published in Molecular genetics and metabolism (01.04.2022)
Published in Molecular genetics and metabolism (01.04.2022)
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Journal Article
A NEW CASE OF (SIDEROFLEXIN-4): NOVEL MUTATION AND FURTHER EVIDENCE OF MITOCHONDRIAL DYSFUNCTION IN FIBROBLASTS
Huang, Wei-Lin, Chapel-Crespo, Cristel C., Bressi, Rebekah, Simon, Mariella T., Stover, Alexander, Nguyen, Daniel, Schwartz, Philip, Abdenur, Jose E.
Published in Molecular genetics and metabolism (01.04.2022)
Published in Molecular genetics and metabolism (01.04.2022)
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Journal Article
Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients
Chapel-Crespo, Cristel, Gavrilov, Dimitar, Sowa, Mary, Myers, Jessica, Day-Salvatore, Debra-Lynn, Lynn, Haley, Regier, Debra, Starin, Danielle, Steenari, Maija, Schoonderwoerd, Kees, Abdenur, Jose E.
Published in Molecular genetics and metabolism (01.09.2019)
Published in Molecular genetics and metabolism (01.09.2019)
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