PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in a Chinese Family: Presentation From Newborn to Adulthood |
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| Authors: | Peilin Lee Yi-Ning Su Chong-Jen Yu Pan-Chyr Yang Huey-Dong Wu |
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| Affiliation: | 1. Center of Sleep Disorder, National Taiwan University Hospital, Taipei, Taiwan;2. Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan;3. Department of Integrated Diagnostics and Therapeutics, National Taiwan University Hospital, Taipei, Taiwan;4. Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan;1. Research Laboratory of Advanced Water and Wastewater Treatment Processes, Department of Applied Chemistry, Faculty of Chemistry, University of Tabriz, 51666-16471 Tabriz, Iran;2. Department of Chemical Engineering, Tabriz Branch, Islamic Azad University, 51579-44533 Tabriz, Iran;1. Department of Pharmacology, University of Virginia, Charlottesville, VA 22908, USA;1. Department of Electrical Engineering, Kunsan National University, Kunsan 573701, Republic of Korea;2. Department of Electrical Engineering, Incheon National University, Incheon 406772, Republic of Korea;3. Measurement and Analysis Division, National Nanofab Center (NNFC), Daejeon 305806, Republic of Korea |
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| Abstract: | |
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| Keywords: | hypoventilation PHOX2B polysomnography sleep apnea ABG" },{" #name" :" keyword" ," $" :{" id" :" cekeyw1122" }," $$" :[{" #name" :" text" ," _" :" arterial blood gas BPAP" },{" #name" :" keyword" ," $" :{" id" :" cekeyw1124" }," $$" :[{" #name" :" text" ," _" :" bilevel positive airway pressure CCHS" },{" #name" :" keyword" ," $" :{" id" :" cekeyw1126" }," $$" :[{" #name" :" text" ," _" :" congenital central hypoventilation syndrome ED" },{" #name" :" keyword" ," $" :{" id" :" cekeyw1128" }," $$" :[{" #name" :" text" ," _" :" emergency department HADS" },{" #name" :" keyword" ," $" :{" id" :" cekeyw1130" }," $$" :[{" #name" :" text" ," _" :" Hospital Anxiety and Depression Scale LOCHS" },{" #name" :" keyword" ," $" :{" id" :" cekeyw1132" }," $$" :[{" #name" :" text" ," _" :" late-onset congenital central hypoventilation syndrome partial pressure at end-tidal carbon dioxide PFT" },{" #name" :" keyword" ," $" :{" id" :" cekeyw1136" }," $$" :[{" #name" :" text" ," _" :" pulmonary function test PHOX2B" },{" #name" :" keyword" ," $" :{" id" :" cekeyw1138" }," $$" :[{" #name" :" text" ," _" :" paired-like homeobox 2B PSG" },{" #name" :" keyword" ," $" :{" id" :" cekeyw1140" }," $$" :[{" #name" :" text" ," _" :" polysomnography SF-36" },{" #name" :" keyword" ," $" :{" id" :" cekeyw1142" }," $$" :[{" #name" :" text" ," _" :" Medical Outcomes Study 36-item short form pulse oximetric saturation Ve" },{" #name" :" keyword" ," $" :{" id" :" cekeyw1146" }," $$" :[{" #name" :" text" ," _" :" minute ventilation |
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