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Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|April 28, 2025
Novel surgical approach for intraventricular cerliponase alfa enzyme replacement therapy via central venous access device (CVAD) port in neuronal ceroid lipofuscinosis type 2 (CLN2) diseaseScott Boop, Dominic Nistal, Adriel Barrios-Anderson, et al.
JPEN. Journal of Parenteral and Enteral Nutrition|October 21, 2020
Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation DisordersMarie K Norris, Anna I Scott, Sarah Sullivan, et al.
Molecular Genetics & Genomic Medicine|February 19, 2020
The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysisSheri A Poskanzer, Jenny Thies, Christopher J Collins, et al.
Frontiers in Immunology|December 20, 2018
Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood SpotsChristopher J Collins, Irene J Chang, Sunhee Jung, et al.
Pediatric Nephrology (Berlin, Germany)|April 12, 2018
COQ2 nephropathy: a treatable cause of nephrotic syndrome in childrenMichelle C Starr, Irene J Chang, Laura S Finn, et al.
Journal of Inherited Metabolic Disease|February 1, 2019
Factor VIII and vWF deficiency in STT3A-CDGIrene J Chang, Heather M Byers, Bobby G Ng, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|May 3, 2014
The natural history of cervical cancer in chinese women: results from an 11-year follow-up study in china using a multistate modelShao-Kai Zhang, Le-Ni Kang, Irene J Chang, et al.
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