TY  - GEN
AU  - Al-Eitan,Laith
AU  - Alqa'qa',Kifah
AU  - Amayreh,Wajdi
AU  - Aljamal,Hanan
AU  - Khasawneh,Rame
AU  - Al-Zoubi,Batool
AU  - Okour,Israa
AU  - Haddad,Amany
AU  - Haddad,Yazan
AU  - Haddad,Hazem
TI  - Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B)
SN  - 1879-0038
PY  - 2020///0518
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Child
KW  - Fatal Outcome
KW  - Female
KW  - Humans
KW  - Infant
KW  - Jordan
KW  - Male
KW  - Mutation
KW  - genetics
KW  - Niemann-Pick Disease, Type A
KW  - enzymology
KW  - Niemann-Pick Disease, Type B
KW  - Pedigree
KW  - Sphingomyelin Phosphodiesterase
KW  - chemistry
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.gene.2020.144683
ER  -