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Mucopolysaccharidosis IV
Known as:
Type IVs, Mucopolysaccharidosis
, IVs, Mucopolysaccharidosis Type
, osteochondrodysplasia
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Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and…
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National Institutes of Health
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Related topics
Related topics
14 relations
GALNS Deficiency
GALNS gene
Gangliosidosis GM1
In Blood
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Broader (1)
Mucopolysaccharidoses
Narrower (3)
Mucopolysaccharidosis type IVB
Mucopolysaccharidosis, MPS-IV-A
Nonkeratan-sulfate-excreting Morquio syndrome
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Roentgenographic diagnosis of mucopolysaccharidosis with particular reference to Morquio syndrome
U. Parashari
,
S. Khanduri
,
S. Bhadury
,
S. Rawat
2012
Corpus ID: 12287833
Mucopolysaccharidosis (MPS) comprises a group of conditions associated with an abnormality in glycoprotein or mucopolysaccharides…
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2005
2005
Spondylo-epiphyseal dysplasia congenita
P. Maroteaux
Pediatric Radiology
2005
Corpus ID: 10838989
2004
2004
Hypochondrogenesis
P. Maroteaux
,
V. Stanescu
,
R. Stănescu
European Journal of Pediatrics
2004
Corpus ID: 263582357
Three clinicopathological observations of a mild form of type II achondrogenesis are presented. The cases were selected from a…
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2000
2000
A locus responsible for osteochondrodysplasia (ocd) is located on rat Chromosome 11
Hiroetsu Suzuki
,
S. Fukaya
,
K. Saito
,
Katsushi Suzuki
Mammalian Genome
2000
Corpus ID: 37292100
Rats of the congenital osteochondrodysplasia (OCD) strain display lethal dwarfing characteristics that are controlled by an…
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1984
1984
[Spondyloepiphyseal dysplasia with an accumulation of glycoproteins in chondrocytes].
R. Stanescu
,
V. Stanescu
,
P. Maroteaux
Archives francaises de pediatrie
1984
Corpus ID: 21159943
A case presenting a peculiar type of spondylo-epiphyseal dysplasia was studied. Clinically, the normal height was striking. The X…
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1977
1977
Kniest syndrome (report of two cases).
K. Med
,
A. Barylak Lek. Med.
,
Z. Kobielowa Doc. Dr. Med.
1977
Corpus ID: 72215457
Kniest syndrome is a rare type of osteochondrodystrophy apparent already at birth. The disease is characterised by…
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1975
1975
Different types of osteochondrodysplasia in a consecutive series of newborns.
Gustavson Kh
,
H. Jorulf
Helvetica paediatrica acta
1975
Corpus ID: 2820488
Among 14816 consecutive live births there were 7 cases of osteochondrodysplasia (incidence 1:2117). In addition there was 1 case…
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1952
1952
[Osteochondrodystrophy deformans (Morquio's disease)].
W. Bustamante
,
A. Doberti
Revista chilena de pediatría
1952
Corpus ID: 42208206
1950
1950
Leptomeningeal changes associated with lipochondrodystrophy, gargoylism; report of a case.
K. R. Magee
Archives of Neurology And Psychiatry
1950
Corpus ID: 44315465
SINCE Hurler's1description of 2 cases in 1919, a syndrome consisting of enlarged, abnormally shaped head, dwarfishness, grotesque…
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1931
1931
Unusual Forms of Familial Osteochondrodystrophy
T. Dale
1931
Corpus ID: 72777685
The patient is the youngest but one of a family of seven children. The parents are healthy; she was born on time; weighed 3,375…
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