Hematopoietic cell transplantation for a child with OSTM1 osteopetrosis.
نویسندگان
چکیده
HCT prior to onset of neurologic symptoms in children with OSTM1 osteopetrosis does not halt neurologic progression.
منابع مشابه
A missense mutation accelerating the gating of the lysosomal Cl−/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle
Chloride-proton exchange by the lysosomal anion transporter ClC-7/Ostm1 is of pivotal importance for the physiology of lysosomes and bone resorption. Mice lacking either ClC-7 or Ostm1 develop a lysosomal storage disease and mutations in either protein have been found to underlie osteopetrosis in mice and humans. Some human disease-causing CLCN7 mutations accelerate the usually slow voltage-dep...
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ورودعنوان ژورنال:
- Blood advances
دوره 1 4 شماره
صفحات -
تاریخ انتشار 2017