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A new N-acetyl-beta-D-hexosaminidase disease with late onset of progressive neurological symptoms

Chester, Alan LU ; Hultberg, B ; Liedholm, Hans LU and Ockerman, P A (1979) In Human Heredity 29(2). p.124-128
Abstract
Clinical data are presented on a 30-year-old male with normal early development (4-5 years) but subsequent progressive impairment of psychomotor functions. He has marked kyphoscoliosis and talipes calcaneo-valgus. The organs appear normal and the patient can walk unaided and feed himself although he does not recognize his parents. He has normal fundi oculi. Biochemical data show an absence of mucopolysacchariduria and very low but detectable levels of N-acetyl-beta-D-hexosaminidase in serum and leucocytes. The clinical symptoms are much milder than would normally be expected from such a profound enzyme deficiency (Sandhoff disease).
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author
; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Human Heredity
volume
29
issue
2
pages
124 - 128
publisher
Karger
external identifiers
  • pmid:155644
  • scopus:0018410404
ISSN
1423-0062
language
English
LU publication?
yes
additional info
The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Division of Hematology and Transfusion Medicine (013041100), Psychiatry/Primary Care/Public Health (013240500)
id
316b2df3-7454-4882-8250-fc34ef2a6a70 (old id 1102721)
date added to LUP
2016-04-01 11:51:09
date last changed
2024-01-07 22:52:03
@article{316b2df3-7454-4882-8250-fc34ef2a6a70,
  abstract     = {{Clinical data are presented on a 30-year-old male with normal early development (4-5 years) but subsequent progressive impairment of psychomotor functions. He has marked kyphoscoliosis and talipes calcaneo-valgus. The organs appear normal and the patient can walk unaided and feed himself although he does not recognize his parents. He has normal fundi oculi. Biochemical data show an absence of mucopolysacchariduria and very low but detectable levels of N-acetyl-beta-D-hexosaminidase in serum and leucocytes. The clinical symptoms are much milder than would normally be expected from such a profound enzyme deficiency (Sandhoff disease).}},
  author       = {{Chester, Alan and Hultberg, B and Liedholm, Hans and Ockerman, P A}},
  issn         = {{1423-0062}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{124--128}},
  publisher    = {{Karger}},
  series       = {{Human Heredity}},
  title        = {{A new N-acetyl-beta-D-hexosaminidase disease with late onset of progressive neurological symptoms}},
  volume       = {{29}},
  year         = {{1979}},
}