Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder.
about
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.Autosomal recessive osteopetrosis: diagnosis, management, and outcome.Importance of neurological assessment before bone marrow transplantation for osteopetrosis.Arthrogryposis multiplex congenital in a child manifesting phenotypic features resembling dysosteosclerosis/osteosclerosis malformation complex; 3DCT scan analysis of the skull base.Osteopetrosis: genetics, treatment and new insights into osteoclast function.Anesthesia Management of a Child with Osteopetrosis.International nosology and classification of constitutional disorders of bone (2001).
P2860
Q33774319-40584647-3432-4359-AB32-63BAA7DDCB0FQ34065111-9022100C-82EB-4401-9208-B456A438A512Q35262498-BD8DAA83-D305-4380-9E02-D5C2E6472DB5Q37225723-90F134FA-B415-49DA-92A4-381C44FCABECQ38123371-03675D96-DF4B-4317-B54B-A88946CDAFF6Q41259753-687FA189-9DE1-4040-BB74-E4A5618468EBQ52113251-FC45E1D5-EC26-4231-AB15-F69CAF98C277
P2860
Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
1995年學術文章
@zh
1995年學術文章
@zh-hant
name
Association of infantile neuro ...... autosomal recessive disorder.
@en
type
label
Association of infantile neuro ...... autosomal recessive disorder.
@en
prefLabel
Association of infantile neuro ...... autosomal recessive disorder.
@en
P2093
P356
P1476
Association of infantile neuro ...... autosomal recessive disorder.
@en
P2093
P304
P356
10.1159/000120923
P577
1995-01-01T00:00:00Z