MPS6
MCID: MCP005
MIFTS: 69

Mucopolysaccharidosis Vi (MPS6) malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Neuronal diseases, Skin diseases categories
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Summaries for Mucopolysaccharidosis Vi

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Genetics Home Reference:21 Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals.

MalaCards based summary: Mucopolysaccharidosis Vi, also known as mucopolysaccharidosis type 6, is related to mucopolysaccharidosis and metachromatic leukodystrophy, and has symptoms including coarse face, corneal clouding/opacity/vascularisation and flared/thick ala nasi. An important gene associated with Mucopolysaccharidosis Vi is ARSB (arylsulfatase B), and among its related pathways are Glycosaminoglycan degradation and Lysosome. The compounds formylglycine and mucopolysaccharide have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and eye.

Disease Ontology:8 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme n-acetylgalactosamine 4-sulfatase.

Wikipedia:65 Maroteaux?Lamy syndrome (also known as mucopolysaccharidosis type VI, MPS VI, or polydystrophic... more...

Description from OMIM:46 253200

Aliases & Classifications for Mucopolysaccharidosis Vi

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 62UMLS, 44Novoseek, 42NIH Rare Diseases, 48Orphanet, 9diseasecard, 46OMIM, 20GeneTests, 22GTR, 39NCIt, 57SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Mucopolysaccharidosis Vi, Aliases & Descriptions:

Name: Mucopolysaccharidosis Vi 30 8 21 10 62
Mucopolysaccharidosis Type 6 42 20 22 48 62
Arylsulfatase B Deficiency 8 42 21 48 62
Mucopolysaccharidosis Type Vi 9 42 21 46
Maroteaux-Lamy Syndrome 8 21 44
Deficiency of N-Acetylgalactosamine-4-Sulfatase 8 62
N-Acetylgalactosamine-4-Sulfatase Deficiency 42 62
Arsb Deficiency 42 48
Mps Vi 42 21
Mps6 21 48
N-Acetylgalactosamine 4-Sulfatase Deficiency 48
 
Mps Vi - Maroteaux-Lamy Syndrome 8
Mucopoly-Saccharidosis Type Vi 42
Maroteaux - Lamy Syndrome 8
Maroteaux Lamy Syndrome 42
Mucopolysaccharidosis 6 21
Polydystrophic Dwarfism 21
Maroteaux-Lamy Disease 48
Arylsulfatase B 9
Asb Deficiency 48
Mpsvi 48
Mps 6 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
mucopolysaccharidosis type 6:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Young adult


External Ids:

Disease Ontology8 DOID:12800
NCIt39 C61264
MeSH34 D009087
OMIM46 253200
SNOMED-CT57 190936000, 69463008
MESH via Orphanet35 D009087
ICD10 via Orphanet26 E76.2
UMLS via Orphanet63 C0026709

Related Diseases for Mucopolysaccharidosis Vi

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Graphical network of the top 20 diseases related to Mucopolysaccharidosis Vi:



Diseases related to mucopolysaccharidosis vi

Symptoms for Mucopolysaccharidosis Vi

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Symptoms by clinical synopsis from OMIM:

253200

Clinical features from OMIM:

253200

Symptoms:

48 (show all 27)
  • coarse face
  • corneal clouding/opacity/vascularisation
  • flared/thick ala nasi
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • thick lips
  • chronic/relapsing otitis
  • metaphyseal anomaly
  • epiphyseal anomaly
  • restricted joint mobility/joint stiffness/ankylosis
  • mucopolysacchariduria
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • hearing loss/hypoacusia/deafness
  • short neck
  • anomalies of the ribs
  • kyphosis
  • abnormal vertebral size/shape
  • herniae
  • genu valgum
  • storage liver disease
  • splenomegaly
  • visual loss/blindness/amblyopia
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • cardiac valvulopathy
  • congenital cardiac anomaly/malformation/cardiopathy
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Mucopolysaccharidosis Vi:

(show all 62)
id Description Frequency HPO Source Accession
1 thick lower lip vermilion hallmark (90%) HP:0000179
2 sinusitis hallmark (90%) HP:0000246
3 coarse facial features hallmark (90%) HP:0000280
4 otitis media hallmark (90%) HP:0000388
5 abnormality of the nasal alae hallmark (90%) HP:0000429
6 abnormality of the metaphyses hallmark (90%) HP:0000944
7 limitation of joint mobility hallmark (90%) HP:0001376
8 short stature hallmark (90%) HP:0004322
9 abnormality of the epiphyses hallmark (90%) HP:0005930
10 opacification of the corneal stroma hallmark (90%) HP:0007759
11 mucopolysacchariduria hallmark (90%) HP:0008155
12 hearing impairment typical (50%) HP:0000365
13 short neck typical (50%) HP:0000470
14 abnormality of the ribs typical (50%) HP:0000772
15 splenomegaly typical (50%) HP:0001744
16 kyphosis typical (50%) HP:0002808
17 genu valgum typical (50%) HP:0002857
18 abnormal form of the vertebral bodies typical (50%) HP:0003312
19 hernia typical (50%) HP:0100790
20 abnormality of the tongue occasional (7.5%) HP:0000157
21 visual impairment occasional (7.5%) HP:0000505
22 abnormality of the heart valves occasional (7.5%) HP:0001654
23 cognitive impairment occasional (7.5%) HP:0100543
24 autosomal recessive inheritance HP:0000007
25 inguinal hernia HP:0000023
26 macroglossia HP:0000158
27 hydrocephalus HP:0000238
28 macrocephaly HP:0000256
29 dolichocephaly HP:0000268
30 coarse facial features HP:0000280
31 hearing impairment HP:0000365
32 glaucoma HP:0000501
33 prominent sternum HP:0000884
34 broad ribs HP:0000885
35 dysostosis multiplex HP:0000943
36 hirsutism HP:0001007
37 split hand HP:0001171
38 hip dysplasia HP:0001385
39 joint stiffness HP:0001387
40 umbilical hernia HP:0001537
41 cardiomyopathy HP:0001638
42 abnormality of the heart valves HP:0001654
43 splenomegaly HP:0001744
44 hepatomegaly HP:0002240
45 cervical myelopathy HP:0002318
46 epiphyseal dysplasia HP:0002656
47 recurrent upper respiratory tract infections HP:0002788
48 genu valgum HP:0002857
49 hypoplastic iliac wings HP:0002866
50 flared iliac wings HP:0002869
51 lumbar hyperlordosis HP:0002938
52 metaphyseal widening HP:0003016
53 metaphyseal irregularity HP:0003025
54 hypoplastic acetabulae HP:0003274
55 ovoid vertebral bodies HP:0003300
56 hypoplasia of the odontoid process HP:0003311
57 disproportionate short-trunk short stature HP:0003521
58 depressed nasal bridge HP:0005280
59 opacification of the corneal stroma HP:0007759
60 dermatan sulfate excretion in urine HP:0008301
61 anterior wedging of l1 HP:0008432
62 anterior wedging of l2 HP:0011941

Drugs & Therapeutics for Mucopolysaccharidosis Vi

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Drug clinical trials:

Search ClinicalTrials for Mucopolysaccharidosis Vi

Search NIH Clinical Center for Mucopolysaccharidosis Vi

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Mucopolysaccharidosis Vi cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Mucopolysaccharidosis Vi:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Hemacord
Embryonic/Adult Cultured Cells Related to Mucopolysaccharidosis Vi:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD, PMID: 9828244

Genetic Tests for Mucopolysaccharidosis Vi

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Genetic tests related to Mucopolysaccharidosis Vi:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Vi20 22 ARSB

Anatomical Context for Mucopolysaccharidosis Vi

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MalaCards organs/tissues related to Mucopolysaccharidosis Vi:

32
Bone, Liver, Eye, Tongue, Bone marrow, Spinal cord, Testes, Brain, Skin

Animal Models for Mucopolysaccharidosis Vi or affiliated genes

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Publications for Mucopolysaccharidosis Vi

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Articles related to Mucopolysaccharidosis Vi:

(show top 50)    (show all 99)
idTitleAuthorsYear
1
Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study. (24764221)
2014
2
Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI. (23179553)
2013
3
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (NaglazymeAr) therapy. (22669363)
2013
4
Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery. (23408180)
2013
5
Galsulfase (NaglazymeAr) therapy in infants with mucopolysaccharidosis VI. (24108527)
2013
6
A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI. (22938833)
2012
7
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region. (22864057)
2012
8
Intrathecal recombinant human 4-sulfatase reduces accumulation of glycosaminoglycans in dura of mucopolysaccharidosis VI cats. (22289849)
2012
9
Maroteaux-Lamy syndrome (mucopolysaccharidosis VI) presenting as familial myelopathy. (21348794)
2011
10
Enzyme replacement therapy for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): experience in Hong Kong. (21813902)
2011
11
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study. (19968667)
2010
12
Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan. (20924685)
2010
13
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. (20140523)
2010
14
Prenatal diagnosis of mucopolysaccharidosis VI by enzyme assay in a dried spot of fetal blood: a pioneering case report. (19960448)
2010
15
Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series. (21791832)
2010
16
Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. (20634905)
2010
17
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). (20961069)
2010
18
Enzyme replacement therapy in the home setting for mucopolysaccharidosis VI: a survey of patient characteristics and physicians' early findings in the United States. (19142150)
2009
19
A systematic review of new advances in the management of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): focus on galsulfase. (19851471)
2009
20
Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI. (19531206)
2009
21
Expensive drugs for rare disorders: to treat or not to treat? The case of enzyme replacement therapy for mucopolysaccharidosis VI. (19366306)
2009
22
Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. (17643332)
2007
23
Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. (16647419)
2006
24
Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study. (15895715)
2005
25
Mucopolysaccharidosis VI in a Siamese/short-haired European cat. (12450194)
2002
26
Urine glycosaminoglycan concentrations in mucopolysaccharidosis VI-affected cats following bone marrow transplantation or leukocyte infusion. (9247723)
1997
27
Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI. (8710849)
1996
28
Bone mineral density in feline mucopolysaccharidosis VI measured using dual-energy X-ray absorptiometry. (8574935)
1995
29
Bone changes in mucopolysaccharidosis VI in cats and the effects of bone marrow transplantation: mechanical testing of long bones. (8579961)
1995
30
Clinical vignette. Mucopolysaccharidosis VI in a miniature pinscher. (8558492)
1995
31
The locus responsible for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is located on rat chromosome 2. (8020950)
1994
32
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. (8116615)
1994
33
Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B. (8144552)
1994
34
Characterization of osteopenia in feline mucopolysaccharidosis VI and evaluation of bone marrow transplantation therapy. (8363879)
1993
35
Preliminary molecular analysis of a case of feline mucopolysaccharidosis VI. (7504466)
1993
36
Reciprocal corneal transplantation fails to correct mucopolysaccharidosis VI corneal storage. (1639616)
1992
37
Animal models for lysosomal storage diseases: a new case of feline mucopolysaccharidosis VI. (1583873)
1992
38
Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis VI. (1735826)
1992
39
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) with hearing impairment and pupillary membrane remnants. (1792906)
1991
40
Morphology of leukocytes from cats affected with alpha-mannosidosis and mucopolysaccharidosis VI (MPS VI). (2503918)
1989
41
Transcultural understanding of a hereditary disorder. Mucopolysaccharidosis VI in a Vietnamese family. (2507210)
1989
42
Correction of feline arylsulphatase B deficiency (mucopolysaccharidosis VI) by bone marrow transplantation. (6438532)
1984
43
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). (6414952)
1983
44
Spinal cord compression and hindlimb paresis in cats with mucopolysaccharidosis VI. (6406411)
1983
45
Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit association. (6799547)
1982
46
Feline mucopolysaccharidosis VI: purification and characterization of the resident arylsulfatase B activity. (6798861)
1981
47
Animal model of human disease: Mucopolysaccharidosis VI Maroteaux-Lamy syndrome, Arylsulfatase B-deficient mucopolysaccharidosis in the Siamese cat. (6794375)
1981
48
Characterization of dermatan sulfate in mucopolysaccharidosis VI. Evidence for the absence of hyaluronidase-like enzymes in human skin fibroblasts. (6770909)
1980
49
Rapid method for measuring arylsulfatase A and B in leucocytes as a diagnosis for sulfatidosis, mucosulfatidosis and mucopolysaccharidosis VI. (6172)
1976
50
Proceedings: The defect in Maroteaux-Lamy disease (mucopolysaccharidosis VI, subtype A): deficiency of N-acetylgalactosamine-4-sulfatase. (4218834)
1974

Variations for Mucopolysaccharidosis Vi

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UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis Vi:

64 (show all 29)
id Symbol AA change Variation ID SNP ID
1ARSBp.Thr92MetVAR_007294
2ARSBp.Arg95GlnVAR_007295
3ARSBp.Cys117ArgVAR_007296
4ARSBp.Gly137ValVAR_007297
5ARSBp.Arg152TrpVAR_007298
6ARSBp.Arg160GlnVAR_007299
7ARSBp.Tyr210CysVAR_007300
8ARSBp.Leu236ProVAR_007301
9ARSBp.Gly302ArgVAR_007302
10ARSBp.His393ProVAR_007304
11ARSBp.Cys405TyrVAR_007305
12ARSBp.Leu498ProVAR_007306
13ARSBp.Ser65PheVAR_019017
14ARSBp.Pro116HisVAR_019019
15ARSBp.Met142IleVAR_019020
16ARSBp.Gly144ArgVAR_019021
17ARSBp.Trp146LeuVAR_019022
18ARSBp.Trp146ArgVAR_019023
19ARSBp.Trp146SerVAR_019024
20ARSBp.Cys192ArgVAR_019025
21ARSBp.Gln239ArgVAR_019026
22ARSBp.Trp312CysVAR_019027
23ARSBp.Arg315GlnVAR_019028
24ARSBp.Leu321ProVAR_019029
25ARSBp.Ser384AsnVAR_019030rs25414
26ARSBp.Phe399LeuVAR_019031
27ARSBp.Arg484GlyVAR_019032rs201101343
28ARSBp.Cys521TyrVAR_019033
29ARSBp.Pro531ArgVAR_019034

Clinvar genetic disease variations for Mucopolysaccharidosis Vi:

6
id Gene Name Type Significance SNP ID Assembly Location
1ARSBNM_000046.3: c.384_386delCTCdeletionPathogenic
2ARSBNM_000046.3(ARSB): c.284G> A (p.Arg95Gln)single nucleotide variantPathogenicrs118203942GRCh37Chr 5, 78280788: 78280788
3ARSBNM_000046.3(ARSB): c.629A> G (p.Tyr210Cys)single nucleotide variantPathogenicrs118203943GRCh37Chr 5, 78260300: 78260300
4ARSBNM_000046.3(ARSB): c.1178A> C (p.His393Pro)single nucleotide variantPathogenicrs118203944GRCh37Chr 5, 78135214: 78135214
5ARSBNM_000046.3(ARSB): c.1143-1G> Csingle nucleotide variantPathogenicrs431905495GRCh37Chr 5, 78135250: 78135250
6ARSBNM_000046.3(ARSB): c.1143-8T> Gsingle nucleotide variantPathogenicrs431905496GRCh37Chr 5, 78135257: 78135257

Expression for genes affiliated with Mucopolysaccharidosis Vi

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Expression patterns in normal tissues for genes affiliated with Mucopolysaccharidosis Vi

Search GEO for disease gene expression data for Mucopolysaccharidosis Vi.

Pathways for genes affiliated with Mucopolysaccharidosis Vi

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Pathways related to Mucopolysaccharidosis Vi according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4ARSB, GALNS
29.4ARSB, GALNS
3
Show member pathways
9.1ARSE, ARSD
4
Show member pathways
8.3ARSH, ARSD, ARSB, ARSE
5
Show member pathways
8.3ARSH, ARSD, ARSB, ARSE
6
Show member pathways
8.3ARSE, ARSB, ARSD, ARSH
7
Show member pathways
7.6GALNS, ARSH, ARSD, ARSB, ARSE

Compounds for genes affiliated with Mucopolysaccharidosis Vi

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 50PharmGKB
See all sources

Compounds related to Mucopolysaccharidosis Vi according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1formylglycine4410.0ARSH, ARSB
2mucopolysaccharide449.9ARSB, ARSH
3cerebroside449.9ARSH, ARSB
4n-acetylgalactosamine 6-sulfate449.8GALNS, ARSH
5chondroitin44 2410.7ARSB, GALNS
6dermatan sulfate449.7ARSB, GALNS
7glucuronic acid449.7ARSH, GALNS
8glucosamine44 24 1111.7GALNS, ARSH
9Galactosylceramide (d18:1/26:1(17Z))249.4ARSD, ARSE
10Galactosylceramide (d18:1/24:1(15Z))249.4ARSD, ARSE
11Galactosylceramide (d18:1/22:0)249.3ARSD, ARSE
12chondroitin sulfate44 2410.3GALNS, ARSH, ARSB
13glycosaminoglycan449.3ARSB, ARSH, GALNS
14Galactosylceramide (d18:1/20:0)249.3ARSD, ARSE
15Galactosylceramide (d18:1/18:1(9Z))249.3ARSD, ARSE
16Galactosylceramide (d18:1/18:0)249.2ARSD, ARSE
17Galactosylceramide (d18:1/16:0)249.2ARSD, ARSE
183-O-Sulfogalactosylceramide (d18:1/24:0)249.1ARSD, ARSE
19heparan sulfate44 2410.1ARSH, GALNS
20estrone sulfate44 2410.0ARSE, ARSD, ARSH
21steroid449.0ARSH, ARSB, ARSE
22cysteine449.0ARSB, ARSH, GALNS
23estrone44 28 24 1111.6ARSH, ARSD, ARSB, ARSE
24Water248.4ARSE, ARSB, ARSD, GALNS
25sulfate44 249.0ARSE, ARSB, ARSD, ARSH, GALNS
26calcium44 50 24 1110.9GALNS, ARSH, ARSD, ARSB, ARSE

GO Terms for genes affiliated with Mucopolysaccharidosis Vi

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Cellular components related to Mucopolysaccharidosis Vi according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.2ARSB, ARSD
2lysosomal lumenGO:0432029.1ARSB, GALNS
3endoplasmic reticulum lumenGO:0057888.2ARSE, ARSB, ARSD, ARSH

Biological processes related to Mucopolysaccharidosis Vi according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan metabolic processGO:0302039.4ARSB, GALNS
2glycosphingolipid metabolic processGO:0066878.4ARSE, ARSB, ARSD, ARSH
3sphingolipid metabolic processGO:0066658.3ARSH, ARSD, ARSB, ARSE
4post-translational protein modificationGO:0436878.3ARSH, ARSD, ARSB, ARSE
5cellular protein metabolic processGO:0442678.0ARSE, ARSB, ARSD, ARSH
6small molecule metabolic processGO:0442817.5GALNS, ARSH, ARSD, ARSB, ARSE

Molecular functions related to Mucopolysaccharidosis Vi according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1N-acetylgalactosamine-4-sulfatase activityGO:0039439.1GALNS, ARSB
2arylsulfatase activityGO:0040658.2ARSE, ARSB, ARSD, ARSH
3metal ion bindingGO:0468727.6ARSE, ARSB, ARSD, ARSH, GALNS

Products for genes affiliated with Mucopolysaccharidosis Vi

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  • Antibodies
  • Proteins
  • Lysates

Sources for Mucopolysaccharidosis Vi

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet