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Table 1 Demographics, and biochemical and molecular  characteristics

From: Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up

  Patient 1 Patient 2 Patient 3 Patient 4 Patient 5
Consanguinity  −   +   +   +   + 
Ethnicity France-North Africa Ivory Coast Maroc Turkey Eritrea
Lymphocytes Vacuolated n.a Vacuolated Vacuolated n.a
LIPA activity
 On WBC 5.1 nmol/h/mg (control: 31.2) 57 µmol/h/g (normal value: 350–2000) n.a n.a n.a
 On DBS (nmol/punch/h) n.a n.a 0 0 0
LIPA pathogenic variant
 Maternal allele c.481delA c.676-2A>G c.429-1G>C c.419G>C c.260G>T
 Paternal allele c.538G>A c.676-2A>G c.429-1G>C c.419G>C c.260G>T
Variant impact
 Maternal allele p.(Asn161Ilefs*19) Disrupting splice acceptor site of intron 6 Disrupting splice acceptor site of intron 4 p.(Trp140Ser) p.(Gly87Val)
 Paternal allele p.(Gly180Ser)  Disrupting splice acceptor site of intron 6 Disrupting splice acceptor site of intron 4 p.(Trp140Ser) p.(Gly87Val)
  1. Reference sequence NM_000235.4. n.a. not available, WBC white blood cells, DBS dried blood spot