Early juvenile Tay–Sachs disease with atypical symptoms
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[1] T. Maihara,et al. Rhabdomyosarcoma with premature chromatid separation–mosaic variegated aneuploidy syndrome: Reduced‐intensity chemotherapy , 2019, Pediatrics international : official journal of the Japan Pediatric Society.
[2] E. Nanba,et al. [Clinical characteristics of early juvenile GM2 gangliosidosis: a case report]. , 2017, No to hattatsu = Brain and development.
[3] W. Kaufmann,et al. Rett syndrome: Revised diagnostic criteria and nomenclature , 2010, Annals of neurology.
[4] B. Banwell,et al. The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported , 2006, Pediatrics.
[5] G. Isshiki,et al. The Major Mutation Among Japanese Patients with Infantile Tay-Sachs Disease: A G-to-T Transversion at the Acceptor Site of Intron 5 of the β-Hexosaminidase α-Gene , 1993 .
[6] G. Isshiki,et al. The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene. , 1993, Biochemical and biophysical research communications.