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Mucopolysaccharidosis VI
Known as:
Mucopolysaccharidosis VI [Disease/Finding]
, MPS VI
, MAROTEAUX-LAMY SYNDROME
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A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine-4-sulfatase. It is characterized by…
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National Institutes of Health
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Related topics
Related topics
32 relations
Aseptic Necrosis of Femur Head
Autosomal recessive inheritance
Carpal Tunnel Syndrome
Cervical myelopathy
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Broader (2)
Enzyme Deficiency
congenital deficiency
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
Review of mucopolysaccharidosis diseases at the Queen Sirikit National Institute of Child Health in the past 15 years.
C. Kuptanon
,
S. Pangkanon
Journal of the Medical Association of Thailand…
2014
Corpus ID: 42226484
BACKGROUND Mucopolysaccharidosis (MPS) can be classified into 7 types according to the enzyme defects. Several countries use…
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2012
2012
Lipid specific T cells in Mucopolysaccharidosis VI patients
M. Maia
2012
Corpus ID: 55418138
Lysosomal storage diseases (LSD) are a group of hereditary metabolic disorders caused by accumulation of undegraded molecules in…
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2004
2004
Il volto cartesiano dell'analogia in alcune pagine di Pourchot, F. Lamy e Fénelon
Zaccone Sina
,
M. Grazia
2004
Corpus ID: 170674929
Nelle confutazioni di Spinoza composte da Francois Lamy e da Pierre-Sylvain Regis troviamo interpretazioni tra loro assai lontane…
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2003
2003
Molecular genetics of arsenic resistance of the biomining bacterium Acidithiobacillus ferrooxidans
Bronwyn G. Butcher
2003
Corpus ID: 82445489
The acidophilic, chemolithoautotrophic bacterium, Acidothiobaci/lus ferrooxidans is one of a consortium of bacteria involved in…
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1999
1999
[Homicide and hebephrenia-like syndrome in metachromatic leukodystrophy].
M. Rentrop
,
K. Hakk
,
F. Freisleder
,
Werner Kissling
,
G. Kockott
Der Nervenarzt
1999
Corpus ID: 20561541
We report a patient with metachromatic leukodystrophy (MLD) with a first manifestation of homicide. On admission the patient…
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1993
1993
Preliminary molecular analysis of a case of feline mucopolysaccharidosis VI.
T. De Luca
,
L. Minichiello
,
A. Leone
,
P. Di Natale
Biochemical and Biophysical Research…
1993
Corpus ID: 20607117
Deficiency of the lysosomal enzyme arylsulphatase B (ASB) causes, in man, the Maroteaux-Lamy disease (mucopolysaccharidosis type…
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1981
1981
Feline mucopolysaccharidosis VI: purification and characterization of the resident arylsulfatase B activity.
D. Vine
,
Margaret M. McGovern
,
M. Haskins
,
Robert J. Desnick
American Journal of Human Genetics
1981
Corpus ID: 21020977
Hepatic arylsulfatase B (ASB) from normal and mucopolysaccharidosis VI (MPS VI) cats was purified over 2,800- and 1,800-fold…
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1980
1980
Ultrastructures of Reilly bodies (metachromatic granules) in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI). A histochemical study.
Louis A. Levy
,
Jon C. Lewis
,
Thomas E. Sumner
American Journal of Clinical Pathology
1980
Corpus ID: 36027817
The leukocytes from an 8-year-old white girl having features of the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI) contained…
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1979
1979
Partial trisomy 22q with elevated arylsulfatase-A activity.
J. Fryns
,
J. Jaeken
,
H. van den Berghe
Annales de Genetique
1979
Corpus ID: 20111295
A two years-old, severely mentally retarded male is reported with 22q trisomy. After the recent confirmation of the localisation…
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1975
1975
Empty sella syndrome in a boy with mucopolysaccharidosis type VI (Maroteaux-Lamy).
K. V. von Mühlendahl
,
G. Bradac
Helvetica paediatrica acta
1975
Corpus ID: 40118311
An 11-year-old boy with mucopolysaccharidosis type VI is presented. Because of optic atrophy, a pneumencephalogram was performed…
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