Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency-affected Sibs

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作者： Naifar, Manel ^[1] ; Kallel, Faten ^[2] ; HadjKacem, Faten ^[3] ; Boudabous, Hela ^[4] ; Kallel, Rim ^[5] ; Boudawara, Tahia ^[6] ; Messaoud, Olfa ^[7] ; Tbib, Neji ; Charfi, Nadia ; Abid, Mohamed ; Froissart, Roseline ; Messedi, Sondes Hdiji ; Ayedi, Fatma

作者单位： Univ Tunis El Manar, Inst Pasteur Tunis, Biomed Genom & Oncogenet Lab, Tunis, Tunisia ^[1] Hosp Civils Lyon, Ctr Biol & Pathol Est, Serv Biochim & Biol Mol Grand Est, Unite Med Pathol Metab ^[2] Hedi Chaker Hosp, Endocrine Dept, Sfax, Tunisia ^[3] Habib Bourguiba Hosp, Pathol Lab, Sfax, Tunisia ^[4] Hedi Chaker Hosp, Dept Hematol, Sfax, Tunisia ^[5] La Rabta Hosp, Pediat Dept, Tunis, Tunisia ^[6] Habib Bourguiba Hosp, Biochem Lab, Sfax 3029, Tunisia ^[7]

关键词 acid sphingomyelinase deficiency Niemann-Pick disease type B growth delay lysosphingomyelin

发布时间 2020-11-17

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