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. 2020 Aug 18;15:210. doi: 10.1186/s13023-020-01471-z

Table 1.

Results by diagnosis subgroups

Complex molecules disorders Small molecules disorders Energy defects disorders Total Percentage (%)
Number of patients 15 (12%) 82 (65%) 29 (23%) 126
Gender Male 10 35 19 64 51
Female 5 47 10 62 49
Age at diagnosis Infantile 0 38 2 40 32
1 to 15 years 9 23 8 40 32
Over 16 years 6 21 19 46 37
Transition from pediatric metabolic clinic 11 70 19 100 79
New patients 4 12 10 26 21
Specific treatment 9 67 23 99 79
Identified pathogenic variant 10 29 24 63 50
Complications related to the disease 8 39 17 64 51
Hospitalized at least once 5 26 14 45 36
Hospitalized due to a metabolic origin 6 15 12 33 73
Lost to follow-up 1 11 3 15 12
Deceased 1 1 0 2 2