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23 results on '"Chang, Irene"'

1. Elevated Oxysterol andN‐ Palmitoyl‐ O ‐PhosphocholineserineLevels in Congenital Disorders of Glycosylation

Author

Dang Do, An N., primary, Chang, Irene J., additional, Jiang, Xutian, additional, Wolfe, Lynne A., additional, Ng, Bobby G., additional, Lam, Christina, additional, Schnur, Rhonda E., additional, Allis, Katrina, additional, Hansikova, Hana, additional, Ondruskova, Nina, additional, O'Connor, Shawn D., additional, Sanchez‐Valle, Amarilis, additional, Vollo, Arve, additional, Wang, Raymond Y., additional, Wolfenson, Zoe, additional, Perreault, John, additional, Ory, Daniel S., additional, Freeze, Hudson H., additional, Merritt, J. Lawrence, additional, and Porter, Forbes D., additional

Published
2023
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2. Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association

Author

Alharbi, Hana, primary, Daniel, Earnest James Paul, additional, Thies, Jenny, additional, Chang, Irene, additional, Goldner, Dana L., additional, Ng, Bobby G., additional, Witters, Peter, additional, Aqul, Amal, additional, Velez‐Bartolomei, Frances, additional, Enns, Gregory M., additional, Hsu, Evelyn, additional, Kichula, Elizabeth, additional, Lee, Esther, additional, Lourenco, Charles, additional, Poskanzer, Sheri A., additional, Rasmussen, Sara, additional, Saarela, Katelyn, additional, Wang, YunZu M., additional, Raymond, Kimiyo M., additional, Schultz, Matthew J., additional, Freeze, Hudson H., additional, Lam, Christina, additional, Edmondson, Andrew C., additional, and He, Miao, additional

Published
2023
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3. The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

Author

Guenzel, Adam J., primary, Hall, Patricia L., additional, Scott, Anna I., additional, Lam, Christina, additional, Chang, Irene J., additional, Thies, Jenny, additional, Ferreira, Carlos R., additional, Pichurin, Pavel, additional, Laxen, William, additional, Raymond, Kimiyo, additional, Gavrilov, Dimitar K., additional, Oglesbee, Devin, additional, Rinaldo, Piero, additional, Matern, Dietrich, additional, and Tortorelli, Silvia, additional

Published
2021
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5. Immune dysfunction in MGAT2‐CDG : A clinical report and review of the literature

Author

Poskanzer, Sheri A., primary, Schultz, Matthew J., additional, Turgeon, Coleman T., additional, Vidal‐Folch, Noemi, additional, Liedtke, Kris, additional, Oglesbee, Devin, additional, Gavrilov, Dimitar K., additional, Tortorelli, Silvia, additional, Matern, Dietrich, additional, Rinaldo, Piero, additional, Bennett, James T., additional, Thies, Jenny M., additional, Chang, Irene J., additional, Beck, Anita E., additional, Raymond, Kimiyo, additional, Allenspach, Eric J., additional, and Lam, Christina, additional

Published
2020
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6. Activating variants inPDGFRBresult in a spectrum of disorders responsive to imatinib monotherapy

Author

Wenger, Tara L., primary, Bly, Randall A., additional, Wu, Natalie, additional, Albert, Catherine M., additional, Park, Julie, additional, Shieh, Joseph, additional, Chenbhanich, Jirat, additional, Heike, Carrie L., additional, Adam, Margaret P., additional, Chang, Irene, additional, Sun, Angela, additional, Miller, Danny E., additional, Beck, Anita E., additional, Gupta, Deepti, additional, Boos, Markus D., additional, Zackai, Elaine H., additional, Everman, David, additional, Ganapathi, Shireen, additional, Wilson, Meredith, additional, Christodoulou, John, additional, Zarate, Yuri A., additional, Curry, Cynthia, additional, Li, Dong, additional, Guimier, Anne, additional, Amiel, Jeanne, additional, Hakonarson, Hakon, additional, Webster, Richard, additional, Bhoj, Elizabeth J., additional, Perkins, Jonathan A., additional, Dahl, John P., additional, and Dobyns, William B., additional

Published
2020
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7. The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

Author

Poskanzer, Sheri A., primary, Thies, Jenny, additional, Collins, Christopher J., additional, Myers, Candace T., additional, Dayuha, Remwilyn, additional, Duong, Phi, additional, Yi, Fan, additional, Chang, Irene J., additional, Ochs, Hans D., additional, Torgerson, Troy R., additional, and Hahn, Si Houn, additional

Published
2020
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9. Factor VIII and vWF deficiency in STT3A‐CDG

Author

Chang, Irene J., primary, Byers, Heather M., additional, Ng, Bobby G., additional, Merritt, John Lawrence, additional, Gilmore, Reid, additional, Shrimal, Shiteshu, additional, Wei, Wei, additional, Zhang, Yuan, additional, Blair, Amanda B., additional, Freeze, Hudson H., additional, Zhang, Bin, additional, and Lam, Christina, additional

Published
2019
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10. Cover Image, Volume 176A, Number 7, July 2018

Author

Chang, Irene J., primary, Sun, Angela, additional, Bouchard, Maryse L., additional, Kamps, Shawn E., additional, Hale, Susan, additional, Done, Stephen, additional, Goldberg, Michael J., additional, and Glass, Ian A., additional

Published
2018
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22. Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.

Author

Dang Do AN, Chang IJ, Jiang X, Wolfe LA, Ng BG, Lam C, Schnur RE, Allis K, Hansikova H, Ondruskova N, O'Connor SD, Sanchez-Valle A, Vollo A, Wang RY, Wolfenson Z, Perreault J, Ory DS, Freeze HH, Merritt JL, and Porter FD

Subjects
Infant, Child, Humans, Glycosylation, Bile Acids and Salts, Hydrolases, Oxysterols, Congenital Disorders of Glycosylation, Niemann-Pick Disease, Type C, Vacuolar Proton-Translocating ATPases
Abstract

Congenital disorders of glycosylation (CDG) and Niemann-Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile-onset severe liver disease and other multisystemic manifestations. Plasma bile acid and N-palmitoyl-O-phosphocholineserine (PPCS) are screening biomarkers with proposed improved sensitivity and specificity for NPC. We report an infant with ATP6AP1-CDG who presented with cholestatic liver failure and elevated plasma oxysterols and bile acid, mimicking NPC clinically and biochemically. On further investigation, PPCS, but not the bile acid derivative N-(3β,5α,6β-trihydroxy-cholan-24-oyl) glycine (TCG), were elevated in plasma samples from individuals with ATP6AP1-, ALG1-, ALG8-, and PMM2-CDG. These findings highlight the importance of keeping CDG within the diagnostic differential when evaluating children with early onset severe liver disease and elevated bile acid or PPCS to prevent delayed diagnosis and treatment., (© 2023 SSIEM. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.)

Published
2023
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23. Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.

Author

Norris MK, Scott AI, Sullivan S, Chang IJ, Lam C, Sun A, Hahn S, Thies JM, Gunnarson M, McKean KN, and Merritt JL 2nd

Subjects
Carnitine, Fatty Acids, Humans, Oxidation-Reduction, Triglycerides, Lipid Metabolism, Inborn Errors drug therapy
Abstract

Background: Patients with severe long-chain fatty acid oxidation disorders (LC-FAODs) experience serious morbidity and mortality despite traditional dietary management including medium-chain triglyceride (MCT)-supplemented, low-fat diets. Triheptanoin is a triglyceride oil that is broken down to acetyl-coenzyme A (CoA) and propionyl-CoA, which replenishes deficient tricarboxylic acid cycle intermediates. We report the complex medical and nutrition management of triheptanoin therapy initiated emergently for 3 patients with LC-FAOD., Methods: Triheptanoin (Ultragenyx Pharmaceutical, Inc, Novato, CA, USA) was administered to 3 patients with LC-FAOD on a compassionate-use basis. Triheptanoin was mixed with non-MCT-containing low-fat formula. Patients were closely followed with regular cardiac and laboratory monitoring., Results: Cardiac ejection fraction normalized after triheptanoin initiation. Patients experienced fewer hospitalizations related to metabolic crises while on triheptanoin. Patient 1 has tolerated oral administration without difficulty since birth. Patients 2 and 3 experienced increased diarrhea. Recurrent breakdown of the silicone gastrostomy tube occurred in patient 3, whereas the polyurethane nasogastric tube for patient 2 remained intact. Patient 3 experiences recurrent episodes of elevated creatine kinase levels and muscle weakness associated with illness. Patient 3 had chronically elevated C10-acylcarnitines while on MCT supplementation, which normalized after initiation of triheptanoin and discontinuation of MCT oil., Conclusions: Triheptanoin can ameliorate acute cardiomyopathy and increase survival in patients with severe LC-FAOD. Substituting triheptanoin for traditional MCT-based treatment improves clinical outcomes. MCT oil might be less effective in carnitine-acylcarnitine translocase deficiency patients compared with other FAODs and needs further investigation., (© 2020 American Society for Parenteral and Enteral Nutrition.)

Published
2021
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