Year | Q1 | Q2 | Q3 | Q4 | Total |
97 | 44 | 54 | 62 | 63 | 223 |
Congenital Adrenal hyperplasia | 5 | 3 | 4 | 5 | 17 |
Congenital Hypothyroidism | 15 | 8 | 17 | 12 | 52 |
Citrullinemia | 3 | 3 | |||
Fabry disease | 3 | 22 | 15 | 20 | 60 |
Glutaric aciduria type 1 | 1 | 1 | 1 | 3 | |
Methylmalonic Acid | 1 | 1 | 1 | 2 | 5 |
Maple Syrup Urine Disease | 1 | 2 | 3 | ||
Pompe disease | 6 | 8 | 18 | 15 | 47 |
Galactosemia | 1 | 2 | 2 | 1 | 6 |
Phenylketonuria | 6 | 3 | 2 | 4 | 15 |
Homocystinuria | 3 | 3 | 1 | 3 | 10 |
Isovaleric acidemia | 2 | 2 | |||
Year | Q1 | Q2 | Q3 | Q4 | Total |
98 | 64 | 67 | 75 | 69 | 275 |
Congenital Adrenal hyperplasia | 7 | 2 | 1 | 10 | |
Carnitine Transporter Defect | 1 | 1 | |||
Congenital Hypothyroidism | 13 | 9 | 13 | 14 | 49 |
Citrullinemia | 1 | 1 | 1 | 3 | |
Fabry disease | 14 | 13 | 21 | 12 | 60 |
Glutaric aciduria type 1 | 1 | 1 | |||
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | 1 | 2 | 3 | ||
Methylmalonic Acid | 2 | 2 | |||
Maple Syrup Urine Disease | 1 | 1 | 2 | ||
Pompe disease | 21 | 34 | 24 | 27 | 106 |
Galactosemia | 1 | 2 | 1 | 4 | |
Phenylketonuria | 3 | 3 | 5 | 7 | 18 |
Homocystinuria | 3 | 1 | 8 | 4 | 16 |
Year | Q1 | Q2 | Q3 | Q4 | Total |
99 | 60 | 55 | 45 | 53 | 213 |
Congenital Adrenal hyperplasia | 2 | 1 | 5 | 8 | |
Carnitine Transporter Defect | 1 | 1 | 1 | 2 | 5 |
Congenital Hypothyroidism | 13 | 7 | 14 | 18 | 52 |
Citrullinemia | 1 | 1 | |||
Fabry disease | 16 | 20 | 10 | 16 | 62 |
Glutaric aciduria type 1 | 1 | 1 | |||
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | 1 | 1 | |||
Methylmalonic Acid | 2 | 1 | 3 | ||
Pompe disease | 23 | 20 | 13 | 7 | 63 |
Propionic Acidemia | 1 | 1 | |||
Galactosemia | 1 | 1 | 1 | 1 | 4 |
Phenylketonuria | 2 | 2 | 4 | 8 | |
Homocystinuria | 1 | 1 | 1 | 3 | |
Isovaleric acidemia | 1 | 1 | |||
Year | Q1 | Q2 | Q3 | Q4 | Total |
100 | 50 | 52 | 74 | 105 | 281 |
Congenital Adrenal hyperplasia | 4 | 4 | 5 | 13 | |
Carnitine Palmitoyl Transferase Deficiency Type I | 1 | 1 | |||
Carnitine Transporter Defect | 1 | 4 | 3 | 2 | 10 |
Congenital Hypothyroidism | 18 | 13 | 9 | 13 | 53 |
Citrullinemia | 2 | 2 | |||
Fabry disease | 13 | 12 | 19 | 36 | 80 |
Glutaric aciduria type 1 | 1 | 1 | |||
Methylmalonic Acid | 1 | 1 | 2 | ||
Pompe disease | 14 | 14 | 29 | 43 | 100 |
Galactosemia | 1 | 1 | 2 | ||
Phenylketonuria | 3 | 5 | 5 | 13 | |
Homocystinuria | 1 | 2 | 1 | 4 | |
Year | Q1 | Q2 | Q3 | Q4 | Total |
101 | 76 | 77 | 115 | 94 | 362 |
Congenital Adrenal hyperplasia | 3 | 1 | 3 | 3 | 10 |
Carnitine Palmitoyl Transferase Deficiency Type I | 1 | 1 | |||
Carnitine Transporter Defect | 2 | 2 | 3 | 7 | |
Congenital Hypothyroidism | 18 | 23 | 27 | 23 | 91 |
Citrullinemia | 1 | 1 | 4 | 6 | |
Fabry disease | 18 | 21 | 19 | 14 | 72 |
Glutaric aciduria type 1 | 1 | 1 | 2 | ||
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | 1 | 1 | 2 | ||
Methylmalonic Acid | 1 | 1 | 2 | ||
Pompe disease | 24 | 25 | 51 | 36 | 136 |
Galactosemia | 1 | 2 | 3 | ||
Phenylketonuria | 7 | 1 | 7 | 10 | 25 |
Homocystinuria | 1 | 1 | 3 | 5 | |
Year | Q1 | Q2 | Q3 | Q4 | Total |
102 | 87 | 81 | 119 | 110 | 397 |
Congenital Adrenal hyperplasia | 3 | 3 | 1 | 7 | |
Carnitine Palmitoyl Transferase Deficiency Type I | 1 | 1 | |||
Carnitine Transporter Defect | 1 | 2 | 3 | ||
Congenital Hypothyroidism | 23 | 21 | 12 | 24 | 80 |
Citrullinemia | 1 | 2 | 2 | 2 | 7 |
Fabry disease | 23 | 27 | 54 | 32 | 136 |
Glutaric aciduria type II | 1 | 1 | |||
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | 1 | 1 | |||
Methylmalonic Acid | 1 | 1 | 2 | 4 | |
Pompe disease | 32 | 20 | 39 | 43 | 134 |
Severe combined immunodeficiency | 1 | 1 | |||
Very long chain acyl-CoA dehydrogenase deficiency | 1 | 1 | |||
Galactosemia | 1 | 1 | |||
Phenylketonuria | 2 | 5 | 5 | 2 | 14 |
Homocystinuria | 1 | 1 | 1 | 1 | 4 |
Isovaleric acidemia | 1 | 1 | 2 | ||
Year | Q1 | Q2 | Q3 | Q4 | Total |
103 | 73 | 59 | 60 | 96 | 288 |
Congenital Adrenal hyperplasia | 2 | 1 | 3 | ||
Carnitine Transporter Defect | 1 | 1 | 2 | ||
Congenital Hypothyroidism | 18 | 22 | 17 | 16 | 73 |
Citrullinemia | 1 | 1 | 2 | ||
Fabry disease | 25 | 15 | 15 | 24 | 79 |
Methylmalonic Acid | 1 | 1 | |||
Pompe disease | 25 | 18 | 20 | 49 | 112 |
Galactosemia | 1 | 1 | 2 | ||
Phenylketonuria | 1 | 3 | 6 | 10 | |
Homocystinuria | 1 | 2 | 3 | ||
Isovaleric acidemia | 1 | 1 | |||
Year | Q1 | Q2 | Q3 | Q4 | Total |
104 | 68 | 72 | 87 | 84 | 311 |
Congenital Adrenal hyperplasia | 1 | 1 | |||
Carnitine Palmitoyl Transferase Deficiency Type I | 1 | 1 | |||
Carnitine Transporter Defect | 3 | 1 | 4 | ||
Congenital Hypothyroidism | 22 | 19 | 22 | 28 | 91 |
Citrullinemia | 3 | 2 | 3 | 4 | 12 |
Fabry disease | 22 | 21 | 32 | 23 | 98 |
Glutaric aciduria type 1 | 1 | 1 | 2 | ||
Gaucher disease | 1 | 1 | |||
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | 1 | 1 | |||
Methylmalonic Acid | 2 | 2 | |||
Pompe disease | 15 | 22 | 19 | 21 | 77 |
Phenylketonuria | 4 | 4 | 5 | 4 | 17 |
Homocystinuria | 1 | 1 | 2 | ||
Isovaleric acidemia | 1 | 1 | 2 | ||
Year | Q1 | Q2 | Q3 | Q4 | Total |
105 | 84 | 100 | 82 | 83 | 349 |
Congenital Adrenal hyperplasia | 1 | 3 | 4 | ||
Carnitine Transporter Defect | 1 | 1 | |||
Congenital Hypothyroidism | 30 | 37 | 22 | 33 | 122 |
Citrullinemia | 3 | 1 | 4 | ||
Fabry disease | 27 | 23 | 23 | 23 | 96 |
Glutaric aciduria type 1 | 2 | 1 | 1 | 2 | 6 |
Gaucher disease | 1 | 1 | |||
Glutaric aciduria type II | 2 | 3 | 5 | ||
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | 1 | 1 | 2 | ||
Methylmalonic Acid | 1 | 1 | 2 | ||
Maple Syrup Urine Disease | 1 | 1 | |||
Pompe disease | 16 | 30 | 24 | 13 | 83 |
Severe combined immunodeficiency | 1 | 1 | 2 | ||
Galactosemia | 2 | 2 | |||
Phenylketonuria | 3 | 2 | 4 | 9 | |
Homocystinuria | 1 | 3 | 2 | 2 | 8 |
Isovaleric acidemia | 1 | 1 | |||
Year | Q1 | Q2 | Q3 | Q4 | Total |
106 | 71 | 75 | 74 | 73 | 293 |
Congenital Adrenal hyperplasia | 1 | 5 | 4 | 10 | |
Carnitine Palmitoyl Transferase Deficiency Type I | 1 | 1 | |||
Carnitine Transporter Defect | 1 | 2 | 1 | 1 | 5 |
Congenital Hypothyroidism | 31 | 24 | 28 | 29 | 112 |
Citrullinemia | 3 | 3 | 1 | 1 | 8 |
Fabry disease | 15 | 12 | 18 | 15 | 60 |
Glutaric aciduria type II | 2 | 1 | 3 | ||
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | 1 | 1 | 1 | 3 | |
Methylmalonic Acid | 1 | 1 | |||
Pompe disease | 14 | 17 | 9 | 14 | 54 |
Severe combined immunodeficiency | 1 | 1 | |||
Spinal Muscular Atrophy | 1 | 1 | 2 | ||
Galactosemia | 2 | 2 | |||
Phenylketonuria | 4 | 7 | 4 | 4 | 19 |
Homocystinuria | 3 | 1 | 2 | 2 | 8 |
Isovaleric acidemia | 2 | 2 | 4 | ||
Year | Q1 | Q2 | Q3 | Q4 | Total |
107 | 51 | 74 | 60 | 74 | 259 |
Adrenoleukodystrophy | 1 | 1 | |||
Congenital Adrenal hyperplasia | 3 | 1 | 1 | 3 | 8 |
Carnitine Palmitoyl Transferase Deficiency Type I | 1 | 1 | 2 | ||
Carnitine Transporter Defect | 3 | 2 | 5 | ||
Congenital Hypothyroidism | 14 | 26 | 19 | 22 | 81 |
Citrullinemia | 2 | 5 | 5 | 12 | |
Fabry disease | 15 | 16 | 10 | 6 | 47 |
Glutaric aciduria type 1 | 1 | 1 | 2 | ||
Methylmalonic Acid | 2 | 2 | |||
Pompe disease | 9 | 18 | 12 | 21 | 60 |
Severe combined immunodeficiency | 2 | 1 | 1 | 4 | |
Spinal Muscular Atrophy | 1 | 4 | 1 | 6 | |
Propionic Acidemia | 1 | 1 | |||
Galactosemia | 2 | 1 | 3 | ||
Phenylketonuria | 2 | 2 | 3 | 3 | 10 |
Homocystinuria | 3 | 3 | 1 | 4 | 11 |
Isovaleric acidemia | 1 | 2 | 1 | 4 | |
Year | Q1 | Q2 | Q3 | Q4 | Total |
108 | 51 | 65 | 75 | 85 | 276 |
Adrenoleukodystrophy | 1 | 8 | 5 | 5 | 19 |
Congenital Adrenal hyperplasia | 2 | 2 | 1 | 5 | |
Carnitine Palmitoyl Transferase Deficiency Type I | 2 | 2 | |||
Carnitine Transporter Defect | 1 | 2 | 5 | 6 | 14 |
Congenital Hypothyroidism | 22 | 27 | 30 | 23 | 102 |
Citrullinemia | 3 | 1 | 1 | 4 | 9 |
Fabry disease | 5 | 4 | 5 | 13 | 27 |
Glutaric aciduria type 1 | 2 | 1 | 3 | ||
Gaucher disease | 2 | 2 | |||
Glutaric aciduria type II | 1 | 1 | 2 | ||
Methylmalonic Acid | 1 | 1 | |||
Pompe disease | 7 | 11 | 16 | 23 | 57 |
Severe combined immunodeficiency | 3 | 3 | |||
Spinal Muscular Atrophy | 1 | 1 | |||
Very long chain acyl-CoA dehydrogenase deficiency | 1 | 1 | |||
Galactosemia | 2 | 1 | 3 | ||
Phenylketonuria | 3 | 4 | 5 | 2 | 14 |
Homocystinuria | 2 | 2 | 5 | 9 | |
Isovaleric acidemia | 2 | 2 | |||
Year | Q1 | Q2 | Q3 | Q4 | Total |
109 | 74 | 73 | 72 | 59 | 278 |
Adrenoleukodystrophy | 2 | 2 | |||
Carnitine Transporter Defect | 1 | 2 | 3 | 1 | 7 |
Congenital Hypothyroidism | 22 | 20 | 23 | 14 | 79 |
Citrullinemia | 13 | 5 | 9 | 8 | 35 |
Fabry disease | 2 | 8 | 10 | 7 | 27 |
Glutaric aciduria type II | 1 | 1 | 2 | ||
Methylmalonic Acid | 3 | 1 | 2 | 1 | 7 |
Mucopolysaccharidosis | 1 | 1 | |||
Pompe disease | 22 | 30 | 13 | 16 | 81 |
Severe combined immunodeficiency | 1 | 1 | 2 | ||
Spinal Muscular Atrophy | 2 | 1 | 3 | ||
Galactosemia | 1 | 1 | 2 | ||
Phenylketonuria | 6 | 2 | 6 | 2 | 16 |
Homocystinuria | 1 | 3 | 2 | 6 | 12 |
Isovaleric acidemia | 2 | 2 | |||
Year | Q1 | Q2 | Q3 | Q4 | Total |
110 | 59 | 54 | 58 | 80 | 251 |
Adrenoleukodystrophy | 4 | 2 | 1 | 3 | 10 |
Congenital Adrenal hyperplasia | 1 | 1 | |||
Carnitine Palmitoyl Transferase Deficiency Type I | 1 | 1 | |||
Carnitine Palmitoyl Transferase Deficiency Type II | 1 | 1 | 2 | ||
Carnitine Transporter Defect | 2 | 1 | 3 | 1 | 7 |
Congenital Hypothyroidism | 22 | 25 | 21 | 28 | 96 |
Citrullinemia | 10 | 8 | 5 | 13 | 36 |
Fabry disease | 5 | 4 | 7 | 16 | 32 |
Glutaric aciduria type 1 | 1 | 1 | |||
Glutaric aciduria type II | 2 | 2 | |||
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | 1 | 1 | |||
Methylmalonic Acid | 1 | 1 | 1 | 3 | |
Mucopolysaccharidosis | 1 | 1 | |||
Pompe disease | 5 | 3 | 7 | 9 | 24 |
Severe combined immunodeficiency | 1 | 1 | 2 | ||
Spinal Muscular Atrophy | 1 | 1 | 3 | 5 | |
Propionic Acidemia | 1 | 1 | |||
Galactosemia | 1 | 2 | 1 | 4 | |
Phenylketonuria | 3 | 1 | 6 | 1 | 11 |
Homocystinuria | 2 | 3 | 2 | 7 | |
Isovaleric acidemia | 1 | 1 | 2 | 4 | |
Year | Q1 | Q2 | Q3 | Q4 | Total |
111 | 50 | 39 | 62 | 54 | 205 |
Adrenoleukodystrophy | 1 | 3 | 3 | 7 | |
Congenital Adrenal hyperplasia | 1 | 1 | |||
Carnitine Palmitoyl Transferase Deficiency Type I | 1 | 1 | 2 | ||
Carnitine Palmitoyl Transferase Deficiency Type II | 1 | 1 | |||
Carnitine Transporter Defect | 1 | 1 | 2 | ||
Congenital Hypothyroidism | 13 | 16 | 28 | 15 | 72 |
Citrullinemia | 6 | 1 | 4 | 10 | 21 |
Duchenne Muscular Dystrophy | 1 | 1 | 2 | ||
Fabry disease | 8 | 11 | 13 | 10 | 42 |
Glutaric aciduria type 1 | 2 | 1 | 3 | ||
Methylmalonic Acid | 1 | 1 | |||
Pompe disease | 7 | 5 | 3 | 6 | 21 |
Severe combined immunodeficiency | 1 | 1 | 1 | 3 | |
Spinal Muscular Atrophy | 2 | 2 | |||
Very long chain acyl-CoA dehydrogenase deficiency | 1 | 1 | |||
Galactosemia | 2 | 2 | 1 | 1 | 6 |
Phenylketonuria | 3 | 1 | 3 | 1 | 8 |
Homocystinuria | 7 | 1 | 8 | ||
Isovaleric acidemia | 1 | 1 | 2 | ||
Year | Q1 | Q2 | Q3 | Q4 | Total |
112 | 40 | 40 | |||
Adrenoleukodystrophy | 2 | 2 | |||
Congenital Adrenal hyperplasia | 1 | 1 | |||
Carnitine Palmitoyl Transferase Deficiency Type I | 1 | 1 | |||
Carnitine Transporter Defect | 1 | 1 | |||
Congenital Hypothyroidism | 14 | 14 | |||
Citrullinemia | 5 | 5 | |||
Fabry disease | 6 | 6 | |||
Glutaric aciduria type 1 | 1 | 1 | |||
Pompe disease | 7 | 7 | |||
Homocystinuria | 1 | 1 | |||
Isovaleric acidemia | 1 | 1 | |||
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