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T1 Age 18 28 7-year-old T2 Personal_background 29 36 Italian T3 Sex 37 40 boy T4 History 41 94 born after an uneventful gestation of normal duration T5 Date 96 119 At the age of 16 months E1 Date:T5 T6 Clinical_event 124 133 presented E2 Clinical_event:T6 T7 Sign_symptom 160 168 enlarged E3 Sign_symptom:T7 T8 Biological_structure 169 176 abdomen R1 MODIFY Arg1:T8 Arg2:E3 T9 Detailed_description 141 159 clinically evident R2 MODIFY Arg1:T9 Arg2:E3 T10 Clinical_event 185 193 referred E4 Clinical_event:T10 T11 Nonbiological_location 198 221 oncological examination R3 MODIFY Arg1:T11 Arg2:E4 T12 Sign_symptom 246 252 anemia E5 Sign_symptom:T12 T13 Sign_symptom 254 270 thrombocytopenia E6 Sign_symptom:T13 T14 Sign_symptom 276 288 splenomegaly E7 Sign_symptom:T14 T15 Diagnostic_procedure 304 310 biopsy E8 Diagnostic_procedure:T15 T16 Biological_structure 292 303 bone marrow R4 MODIFY Arg1:T16 Arg2:E8 T17 Sign_symptom 336 346 foam cells E9 Sign_symptom:T17 T18 Disease_disorder 374 399 lysosomal storage disease E10 Disease_disorder:T18 T19 Diagnostic_procedure 401 420 Biochemical testing E11 Diagnostic_procedure:T19 T20 Diagnostic_procedure 448 464 acid phosphatase E12 Diagnostic_procedure:T20 T21 Lab_value 466 475 47.8 IU/L R5 MODIFY Arg1:T21 Arg2:E12 T22 Lab_value 430 438 elevated R6 MODIFY Arg1:T22 Arg2:E12 T23 Diagnostic_procedure 505 529 chitotriosidase activity E13 Diagnostic_procedure:T23 R7 MODIFY Arg1:T22 Arg2:E13 T24 Lab_value 531 550 508 nmol/mg protein R8 MODIFY Arg1:T24 Arg2:E13 T25 Diagnostic_procedure 612 637 beta-glucosidase activity E14 Diagnostic_procedure:T25 T26 Lab_value 604 611 reduced R9 MODIFY Arg1:T26 Arg2:E14 T27 Lab_value 639 656 2 nmol/mg/protein R10 MODIFY Arg1:T27 Arg2:E14 T28 Diagnostic_procedure 699 717 Molecular analysis E15 Diagnostic_procedure:T28 T29 Disease_disorder 829 832 NGD E16 Disease_disorder:T29 #1 AnnotatorNotes E16 neuronopathic Gaucher disease T30 Sign_symptom 742 767 mutations in the GBA gene E17 Sign_symptom:T30 T31 Detailed_description 736 741 L444P T32 Detailed_description 725 735 homozygous R11 MODIFY Arg1:T31 Arg2:E17 R12 MODIFY Arg1:T32 Arg2:E17 T33 Therapeutic_procedure 852 855 ERT E18 Therapeutic_procedure:T33 #2 AnnotatorNotes E18 Enzyme replacement therapy T34 Dosage 871 892 60 U/kg every 2 weeks R13 MODIFY Arg1:T34 Arg2:E18 T35 Date 893 916 at the age of 18 months E19 Date:T35 T36 Date 959 975 age of 30 months E20 Date:T36 T37 Therapeutic_procedure 999 1002 ERT E21 Therapeutic_procedure:T37 T38 Therapeutic_procedure 1008 1011 SRT E22 Therapeutic_procedure:T38 #3 AnnotatorNotes E22 substrate reduction therapy T39 Medication 1017 1026 miglustat E23 Medication:T39 R14 SUB_PROCEDURE Arg1:E23 Arg2:E22 T40 Medication 1215 1224 miglustat E24 Medication:T40 T41 Detailed_description 1229 1282 adjusted according to the patient’s body surface area R15 MODIFY Arg1:T41 Arg2:E24 T42 Dosage 1466 1490 100 mg three times daily T43 Date 1492 1505 after 1 month E25 Date:T43 R16 MODIFY Arg1:T42 Arg2:E24 T44 Therapeutic_procedure 1590 1611 dietary modifications E26 Therapeutic_procedure:T44 T45 Date 1507 1526 From 2 weeks before E27 Date:T45 T46 Medication 1536 1545 miglustat E28 Medication:T46 T47 Detailed_description 1613 1681 avoiding high intake of carbohydrate-containing food in single meals R17 MODIFY Arg1:T47 Arg2:E26 T48 Sign_symptom 1836 1844 diarrhea E29 Sign_symptom:T48 T49 Severity 1819 1823 mild R18 MODIFY Arg1:T49 Arg2:E29 T50 Medication 1862 1871 miglustat E30 Medication:T50 T51 Detailed_description 1694 1750 foods high in disaccharides, such as sucrose and maltose R19 MODIFY Arg1:T51 Arg2:T47 T52 Lab_value 1887 1928 decreased in frequency/severity over time R20 MODIFY Arg1:T52 Arg2:E29 T53 Sign_symptom 2012 2024 splenomegaly E31 Sign_symptom:T53 A1 TREND E31 DEC T54 Diagnostic_procedure 2056 2076 hematological values E32 Diagnostic_procedure:T54 T55 Lab_value 2039 2052 normalization R21 MODIFY Arg1:T55 Arg2:E32 T56 Diagnostic_procedure 2081 2126 plasma angiotensin-converting enzyme activity E33 Diagnostic_procedure:T56 R22 MODIFY Arg1:T55 Arg2:E33 T57 Diagnostic_procedure 2138 2160 Plasma chitotriosidase E34 Diagnostic_procedure:T57 T58 Frequency 2223 2237 every 6 months R23 MODIFY Arg1:T58 Arg2:E34 T59 Clinical_event 2245 2254 follow-up E35 Clinical_event:T59 T60 Lab_value 2273 2290 initial reduction T61 Lab_value 2348 2366 sustained decrease R24 MODIFY Arg1:T60 Arg2:E34 R25 MODIFY Arg1:T61 Arg2:E34 T62 Detailed_description 2291 2313 after the start of ERT T63 Detailed_description 2367 2398 after commencement of miglustat R26 MODIFY Arg1:T62 Arg2:T60 R27 MODIFY Arg1:T63 Arg2:T61 T64 Clinical_event 2439 2447 followed E36 Clinical_event:T64 T65 Detailed_description 2448 2490 according to recommended guidelines for GD R28 MODIFY Arg1:T65 Arg2:E36 T66 Diagnostic_procedure 2517 2541 neurological examination E37 Diagnostic_procedure:T66 T67 Diagnostic_procedure 2552 2582 evaluation of ocular movements E38 Diagnostic_procedure:T67 T68 Diagnostic_procedure 2588 2613 psychological evaluations E39 Diagnostic_procedure:T68 T69 Frequency 2614 2631 every 6–12 months R29 MODIFY Arg1:T69 Arg2:E39 T70 Duration 2644 2651 5 years E40 Duration:T70 T71 Therapeutic_procedure 2655 2674 combination therapy E41 Therapeutic_procedure:T71 T72 Clinical_event 2679 2688 follow-up E42 Clinical_event:T72 R30 MODIFY Arg1:E40 Arg2:E41 R31 MODIFY Arg1:E40 Arg2:E42 T73 Sign_symptom 2728 2751 neurological impairment E43 Sign_symptom:T73 A2 POLARITY E43 NEG T74 Date 2759 2772 February 2016 E44 Date:T74 T75 Sign_symptom 2799 2815 epileptic crises E45 Sign_symptom:T75 A3 POLARITY E45 NEG T76 Sign_symptom 2837 2857 clinical performance E46 Sign_symptom:T76 T77 Activity 2862 2873 cooperation E47 Activity:T77 T78 Diagnostic_procedure 2890 2916 muscular tone and trophism E48 Diagnostic_procedure:T78 T79 Lab_value 2885 2889 good R32 MODIFY Arg1:T79 Arg2:E48 T80 Diagnostic_procedure 2925 2933 reflexes E49 Diagnostic_procedure:T80 T81 Lab_value 2918 2924 normal R33 MODIFY Arg1:T81 Arg2:E49 T82 Sign_symptom 2948 2961 hyperreflexia E50 Sign_symptom:T82 T83 Severity 2941 2947 slight R34 MODIFY Arg1:T83 Arg2:E50 T84 Biological_structure 2969 2973 legs R35 MODIFY Arg1:T84 Arg2:E50 T85 Diagnostic_procedure 2990 3002 Romberg sign E51 Diagnostic_procedure:T85 T86 Lab_value 2981 2989 negative R36 MODIFY Arg1:T86 Arg2:E51 T87 Diagnostic_procedure 3008 3033 toe and heel deambulation E52 Diagnostic_procedure:T87 T88 Lab_value 3038 3044 normal R37 MODIFY Arg1:T88 Arg2:E52 T89 Diagnostic_procedure 3061 3079 ocular evaluations E53 Diagnostic_procedure:T89 T90 Sign_symptom 3104 3140 saccadic movement velocity reduction E54 Sign_symptom:T90 A4 POLARITY E54 NEG T91 Diagnostic_procedure 3152 3176 visual evoked potentials E55 Diagnostic_procedure:T91 R38 SUB_PROCEDURE Arg1:E55 Arg2:E53 T92 Lab_value 3145 3151 normal R39 MODIFY Arg1:T92 Arg2:E55 T93 Diagnostic_procedure 3192 3216 auditory brain responses E56 Diagnostic_procedure:T93 T94 Lab_value 3227 3233 normal R40 MODIFY Arg1:T94 Arg2:E56 T95 Sign_symptom 3276 3296 cognitive impairment E57 Sign_symptom:T95 A5 POLARITY E57 NEG T96 Activity 3319 3334 attended school E58 Activity:T96 T97 Detailed_description 3340 3356 good performance R41 MODIFY Arg1:T97 Arg2:E58 T98 Detailed_description 3309 3318 regularly R42 MODIFY Arg1:T98 Arg2:E58 T99 Date 3357 3381 since the age of 5 years E59 Date:T99 * OVERLAP E1 E2 E3 R43 BEFORE Arg1:E3 Arg2:E4 * OVERLAP E4 E5 E6 E7 E8 E9 E10 E11 E12 E13 E14 E15 E17 E16 R44 BEFORE Arg1:E16 Arg2:E18 * OVERLAP E18 E19 R45 BEFORE Arg1:E19 Arg2:E20 * OVERLAP E20 E21 E22 R46 BEFORE Arg1:E22 Arg2:E24 * OVERLAP E24 E25 R47 AFTER Arg1:E25 Arg2:E27 * OVERLAP E27 E28 E26 R48 BEFORE Arg1:E26 Arg2:E29 * OVERLAP E29 E30 R49 BEFORE Arg1:E30 Arg2:E31 * OVERLAP E31 E32 E33 R50 AFTER Arg1:E33 Arg2:E34 R51 BEFORE Arg1:E34 Arg2:E35 R52 BEFORE Arg1:E35 Arg2:E36 * OVERLAP E36 E37 E38 E39 R53 MODIFY Arg1:T69 Arg2:E38 R54 MODIFY Arg1:T69 Arg2:E37 R55 BEFORE Arg1:E39 Arg2:E40 * OVERLAP E40 E41 E42 E43 R56 BEFORE Arg1:E43 Arg2:E44 * OVERLAP E44 E45 E46 E47 E48 E49 E50 E51 E52 E53 E54 E56 E57 E58 E59