From: Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial
patient
Age (years)
Genotype
Allele 1
Allele 2
101
28
p.R89Q
p.W402X
102
37
p.Q70X
p.D445del
103
19
IVS7+1G>A
p.X654R
104
31
c.590-6ins4
p.Y343X
105
30
p.R383H
106
24