Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B)-Reference-Cited by-同舟云学术

Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B)

Published:2020-07 Issue: Volume:747 Page:144683
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

AL-Eitan Laith^ORCID,Alqa'qa' Kifah,Amayreh Wajdi,Aljamal Hanan^ORCID,Khasawneh Rame,Al-Zoubi Batool,Okour Israa,Haddad Amany,Haddad Yazan^ORCID,Haddad Hazem

Funder

JUST

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference44 articles.

1. Emergence of pharmacogenomics in academic medicine and public health in Jordan: History, Present State and Prospects;AL-Eitan;Curr. Pharmacogenom. Person. Med.,2014

2. Practical challenges and translational issues in pharmacogenomics and personalized medicine from 2010 onwards;AL-Eitan;Curr. Pharmacogenom. Person. Med.,2016

3. Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population;Cerón-Rodríguez;Ann. Hepatol.,2019

4. Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients;Cheema;Pak. J. Med. Sci.,2020

5. Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease;Clark;PLoS One,2015

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. SMPD1 expression profile and mutation landscape help decipher genotype–phenotype association and precision diagnosis for acid sphingomyelinase deficiency;Hereditas;2023-03-13

2. SMPD1 gene variants in patients with β-Thalassemia major;Molecular Biology Reports;2023-02-01

3. SMPD1 Expression Profile and Mutation Landscape Help Decipher Genotype–Phenotype Association and Precision Diagnosis for Acid Sphingomyelinase Deficiency;2022-11-22

4. SMPD1 Expression Profile and Mutation Landscape Help Decipher Genotype–Phenotype Association and Precision Diagnosis for Niemann–Pick Disease Types A and B;2022-08-09