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歷年診斷人數統計

YearQ1Q2Q3Q4Total
9744546263223
Congenital Adrenal hyperplasia534517
Congenital Hypothyroidism158171252
Citrullinemia33
Fabry disease322152060
Glutaric aciduria type 11113
Methylmalonic Acid11125
Maple Syrup Urine Disease123
Pompe disease68181547
Galactosemia12216
Phenylketonuria632415
Homocystinuria331310
Isovaleric acidemia22
YearQ1Q2Q3Q4Total
9864677569275
Congenital Adrenal hyperplasia72110
Carnitine Transporter Defect11
Congenital Hypothyroidism139131449
Citrullinemia1113
Fabry disease1413211260
Glutaric aciduria type 111
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency123
Methylmalonic Acid22
Maple Syrup Urine Disease112
Pompe disease21342427106
Galactosemia1214
Phenylketonuria335718
Homocystinuria318416
YearQ1Q2Q3Q4Total
9960554553213
Congenital Adrenal hyperplasia2158
Carnitine Transporter Defect11125
Congenital Hypothyroidism137141852
Citrullinemia11
Fabry disease1620101662
Glutaric aciduria type 111
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency11
Methylmalonic Acid213
Pompe disease232013763
Propionic Acidemia11
Galactosemia11114
Phenylketonuria2248
Homocystinuria1113
Isovaleric acidemia11
YearQ1Q2Q3Q4Total
100505274105281
Congenital Adrenal hyperplasia44513
Carnitine Palmitoyl Transferase Deficiency Type I11
Carnitine Transporter Defect143210
Congenital Hypothyroidism181391353
Citrullinemia22
Fabry disease1312193680
Glutaric aciduria type 111
Methylmalonic Acid112
Pompe disease14142943100
Galactosemia112
Phenylketonuria35513
Homocystinuria1214
YearQ1Q2Q3Q4Total
101767711594362
Congenital Adrenal hyperplasia313310
Carnitine Palmitoyl Transferase Deficiency Type I11
Carnitine Transporter Defect2237
Congenital Hypothyroidism1823272391
Citrullinemia1146
Fabry disease1821191472
Glutaric aciduria type 1112
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency112
Methylmalonic Acid112
Pompe disease24255136136
Galactosemia123
Phenylketonuria7171025
Homocystinuria1135
YearQ1Q2Q3Q4Total
1028781119110397
Congenital Adrenal hyperplasia3317
Carnitine Palmitoyl Transferase Deficiency Type I11
Carnitine Transporter Defect123
Congenital Hypothyroidism2321122480
Citrullinemia12227
Fabry disease23275432136
Glutaric aciduria type II11
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency11
Methylmalonic Acid1124
Pompe disease32203943134
Severe combined immunodeficiency11
Very long chain acyl-CoA dehydrogenase deficiency11
Galactosemia11
Phenylketonuria255214
Homocystinuria11114
Isovaleric acidemia112
YearQ1Q2Q3Q4Total
10373596096288
Congenital Adrenal hyperplasia213
Carnitine Transporter Defect112
Congenital Hypothyroidism1822171673
Citrullinemia112
Fabry disease2515152479
Methylmalonic Acid11
Pompe disease25182049112
Galactosemia112
Phenylketonuria13610
Homocystinuria123
Isovaleric acidemia11
YearQ1Q2Q3Q4Total
10468728784311
Congenital Adrenal hyperplasia11
Carnitine Palmitoyl Transferase Deficiency Type I11
Carnitine Transporter Defect314
Congenital Hypothyroidism2219222891
Citrullinemia323412
Fabry disease2221322398
Glutaric aciduria type 1112
Gaucher disease11
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency11
Methylmalonic Acid22
Pompe disease1522192177
Phenylketonuria445417
Homocystinuria112
Isovaleric acidemia112
YearQ1Q2Q3Q4Total
105841008283349
Congenital Adrenal hyperplasia134
Carnitine Transporter Defect11
Congenital Hypothyroidism30372233122
Citrullinemia314
Fabry disease2723232396
Glutaric aciduria type 121126
Gaucher disease11
Glutaric aciduria type II235
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency112
Methylmalonic Acid112
Maple Syrup Urine Disease11
Pompe disease1630241383
Severe combined immunodeficiency112
Galactosemia22
Phenylketonuria3249
Homocystinuria13228
Isovaleric acidemia11
YearQ1Q2Q3Q4Total
10671757473293
Congenital Adrenal hyperplasia15410
Carnitine Palmitoyl Transferase Deficiency Type I11
Carnitine Transporter Defect12115
Congenital Hypothyroidism31242829112
Citrullinemia33118
Fabry disease1512181560
Glutaric aciduria type II213
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency1113
Methylmalonic Acid11
Pompe disease141791454
Severe combined immunodeficiency11
Spinal Muscular Atrophy112
Galactosemia22
Phenylketonuria474419
Homocystinuria31228
Isovaleric acidemia224
YearQ1Q2Q3Q4Total
10751746074259
Adrenoleukodystrophy11
Congenital Adrenal hyperplasia31138
Carnitine Palmitoyl Transferase Deficiency Type I112
Carnitine Transporter Defect325
Congenital Hypothyroidism1426192281
Citrullinemia25512
Fabry disease151610647
Glutaric aciduria type 1112
Methylmalonic Acid22
Pompe disease918122160
Severe combined immunodeficiency2114
Spinal Muscular Atrophy1416
Propionic Acidemia11
Galactosemia213
Phenylketonuria223310
Homocystinuria331411
Isovaleric acidemia1214
YearQ1Q2Q3Q4Total
10851657585276
Adrenoleukodystrophy185519
Congenital Adrenal hyperplasia2215
Carnitine Palmitoyl Transferase Deficiency Type I22
Carnitine Transporter Defect125614
Congenital Hypothyroidism22273023102
Citrullinemia31149
Fabry disease5451327
Glutaric aciduria type 1213
Gaucher disease22
Glutaric aciduria type II112
Methylmalonic Acid11
Pompe disease711162357
Severe combined immunodeficiency33
Spinal Muscular Atrophy11
Very long chain acyl-CoA dehydrogenase deficiency11
Galactosemia213
Phenylketonuria345214
Homocystinuria2259
Isovaleric acidemia22
YearQ1Q2Q3Q4Total
10974737259278
Adrenoleukodystrophy22
Carnitine Transporter Defect12317
Congenital Hypothyroidism2220231479
Citrullinemia1359835
Fabry disease2810727
Glutaric aciduria type II112
Methylmalonic Acid31217
Mucopolysaccharidosis11
Pompe disease2230131681
Severe combined immunodeficiency112
Spinal Muscular Atrophy213
Galactosemia112
Phenylketonuria626216
Homocystinuria132612
Isovaleric acidemia22
YearQ1Q2Q3Q4Total
11059545880251
Adrenoleukodystrophy421310
Congenital Adrenal hyperplasia11
Carnitine Palmitoyl Transferase Deficiency Type I11
Carnitine Palmitoyl Transferase Deficiency Type II112
Carnitine Transporter Defect21317
Congenital Hypothyroidism2225212896
Citrullinemia10851336
Fabry disease5471632
Glutaric aciduria type 111
Glutaric aciduria type II22
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency11
Methylmalonic Acid1113
Mucopolysaccharidosis11
Pompe disease537924
Severe combined immunodeficiency112
Spinal Muscular Atrophy1135
Propionic Acidemia11
Galactosemia1214
Phenylketonuria316111
Homocystinuria2327
Isovaleric acidemia1124
YearQ1Q2Q3Q4Total
11150396254205
Adrenoleukodystrophy1337
Congenital Adrenal hyperplasia11
Carnitine Palmitoyl Transferase Deficiency Type I112
Carnitine Palmitoyl Transferase Deficiency Type II11
Carnitine Transporter Defect112
Congenital Hypothyroidism1316281572
Citrullinemia6141021
Duchenne Muscular Dystrophy112
Fabry disease811131042
Glutaric aciduria type 1213
Methylmalonic Acid11
Pompe disease753621
Severe combined immunodeficiency1113
Spinal Muscular Atrophy22
Very long chain acyl-CoA dehydrogenase deficiency11
Galactosemia22116
Phenylketonuria31318
Homocystinuria718
Isovaleric acidemia112
YearQ1Q2Q3Q4Total
1124040
Adrenoleukodystrophy22
Congenital Adrenal hyperplasia11
Carnitine Palmitoyl Transferase Deficiency Type I11
Carnitine Transporter Defect11
Congenital Hypothyroidism1414
Citrullinemia55
Fabry disease66
Glutaric aciduria type 111
Pompe disease77
Homocystinuria11
Isovaleric acidemia11

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