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scheie syndrome - accumulation of complex carbohydrates in cells; MPS Type 1S
Definition for Scheie Syndrome
Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I) or "Hurler's disease", is a genetic disorder that results in the deficiency of alpha-L iduronidase, which is an enzyme that breaks down mucopolysaccharides.
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Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I) or "Hurler's disease", is a genetic disorder that results in the deficiency of alpha-L iduronidase, which is an enzyme that breaks down mucopolysaccharides. Without this enzyme, the buildup of heparan sulfate and dermatan sulfate occurs in the body (the heart, liver, brain etc.). Symptoms appear during childhood and early death can occur due to organ damage.
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some common symptoms
arm(s) and or leg(s) deformed
knee deformity
limited knee movements
some related diagnoses
1 - 6 of
6
diagnoses
arthritis
rheumatoid arthritis
dislocation joint(s)
osteoarthritis
osteochondroma
syphilis
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do i have 'Scheie Syndrome'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'scheie syndrome'
1 - 5 of
21
diagnostic tests
Chorionic Villus Sampling (CVS)
Scheie Syndrome and Chorionic Villus Sampling (CVS)
ECHOcardiogram
Scheie Syndrome and ECHOcardiogram
EKG
Electrocardiogram
Scheie Syndrome and EKG
Hearing test
standard technique of representing hearing loss
Scheie Syndrome and Hearing test
X-rays
Scheie Syndrome and X-rays
vision tests
Scheie Syndrome and vision tests
Amniocentesis
Scheie Syndrome and Amniocentesis
a-L-iduronidase in cultured fibroblasts
Scheie Syndrome and a-L-iduronidase in cultured fibroblasts
a-L-iduronidase in white blood cells
Scheie Syndrome and a-L-iduronidase in white blood cells
24 hour urinary acid mucopolysaccharides
Scheie Syndrome and 24 hour urinary acid mucopolysaccharides
Comprehensive eye exam
Scheie Syndrome and Comprehensive eye exam
Developmental testing
Scheie Syndrome and Developmental testing
Urine glycosaminoglycan
Scheie Syndrome and Urine glycosaminoglycan
Urine spot tests for mucopolysaccharides (GAG)
Scheie Syndrome and Urine spot tests for mucopolysaccharides (GAG)
cultured skin fibroblasts for biochemical study
Scheie Syndrome and cultured skin fibroblasts for biochemical study
direct enzymatic assay in fibroblasts
Scheie Syndrome and direct enzymatic assay in fibroblasts
direct enzymatic assay in white blood cells
Scheie Syndrome and direct enzymatic assay in white blood cells
speech reception threshold (SRT)
Scheie Syndrome and speech reception threshold (SRT)
urine dermatan sulfate
Scheie Syndrome and urine dermatan sulfate
urine dimethylmethylene blue test
Scheie Syndrome and urine dimethylmethylene blue test
urine heparan sulfate
Scheie Syndrome and urine heparan sulfate
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therapeutic procedures for 'Scheie Syndrome'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Scheie Syndrome:
therapeutic procedure search results for 'scheie syndrome'
1 - 5 of
9
therapeutic procedures
rankings are computer generated. please consult your health care provider.
Orthopedic surgical care
Scheie Syndrome and Orthopedic surgical care
Corneal grafting
Scheie Syndrome and Corneal grafting
Corneal surgery
Scheie Syndrome and Corneal surgery
Fetal therapy
Scheie Syndrome and Fetal therapy
Hematopoietic stem cell transplantation
Scheie Syndrome and Hematopoietic stem cell transplantation
Histocompatibility testing
Scheie Syndrome and Histocompatibility testing
Special Education
Scheie Syndrome and Special Education
Speech Therapy
Scheie Syndrome and Speech Therapy
eye surgery
Scheie Syndrome and eye surgery
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medications search results for 'scheie syndrome'
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laronidase
Scheie Syndrome and laronidase
web search results for scheie syndrome
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1 - 50
- Scheie Syndrome
Scheie syndrome
Scheie syndrome is one of a number of heritable mucopolysaccharide storage ... a family history of Scheie syndrome. coarsened facial features ...
http://adam.about.com/encyclopedia/001246sym.htm
adam.about.com
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summary
[Anesthesia in a patient with Scheie syndrome]
We report a case of Scheie syndrome, a mild type of MPS, which presented a ... Especially in a patient with Scheie syndrome, whose mental development is normal, ...
http://www.ncbi.nlm.nih.gov/pubmed/7967040?dopt=Abstract
www.ncbi.nlm.nih.gov
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summary
MedlinePlus Medical Encyclopedia: Scheie syndrome
Scheie syndrome is an inherited disease of metabolism in which ... Persons with Scheie syndrome are missing a substance called lysosomal alpha-L-iduronidase. ...
http://www.nlm.nih.gov/medlineplus/ency/article/001246.htm
www.nlm.nih.gov
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Scheie syndrome
Scheie syndrome is an inherited disease of metabolism in which the body cannot ... Persons with Scheie syndrome are missing a substance called lysosomal alpha ...
http://adam.about.com/encyclopedia/infectiousdiseases/Scheie-syndrome.htm
adam.about.com
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SCHEIE SYNDROME - Pedbase.org
... Pediatric Database - Detailed information of SCHEIE SYNDROME. SCHEIE SYNDROME ... 1994 -2007 Pedbase.org. Powered by Database of Pediatrics- SCHEIE SYNDROME ...
http://pedbase.org/s/scheie-syndrome/
pedbase.org
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Hurler syndrome - Wikipedia, the free encyclopedia
... two types are MPS I S or Scheie syndrome and MPS I H-S or Hurler-Scheie syndrome. ... Hurler Syndrome Community. Hide and Seek Foundation For Lysosomal ...
http://en.wikipedia.org/wiki/Hurler_syndrome
en.wikipedia.org
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Mucopolysaccharidosis type I - Genetics Home Reference
MedlinePlus Encyclopedia: Scheie syndrome ... Scheie Syndrome. See How are genetic conditions and genes named? in the Handbook. ...
http://ghr.nlm.nih.gov/condition=mucopolysaccharidosistypei
ghr.nlm.nih.gov
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Health Library - Avera Health
Hurler syndrome is a rare, inherited disease of ... (Scheie syndrome) ... Persons with Hurler syndrome do not make a substance called lysosomal ...
http://averaorg.adam.com/content.aspx?productId=101&pid=1&gid=001204
averaorg.adam.com
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Mucopolysaccharidosis Type I - Yahoo! Health
Important It is possible that the main title of the report Mucopolysaccharidosis ... I is called Scheie syndrome (or MPS IS), and the name Hurler-Scheie (MPS IH/S) ...
http://health.yahoo.com/digestive-overview/mucopolysaccharid...
health.yahoo.com
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summary
MedlinePlus Medical Encyclopedia: Hurler syndrome
Information about Mucopolysaccharidosis type I (MPS I), also known as Alpha ... MPS I S (Scheie syndrome) Causes Return to top ...
http://www.nlm.nih.gov/medlineplus/ency/article/001204.htm
www.nlm.nih.gov
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Mitral Valve Stenosis-Cause
Virtually all cases of mitral valve stenosis are caused by rheumatic fever, ... Metabolic disorders, such as Fabry's disease or Hurler-Scheie syndrome. ...
http://www.webmd.com/heart-disease/tc/mitral-valve-stenosis-cause
www.webmd.com
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Lungs and breathing - Genetics Home Reference
Hurler-Scheie Syndrome see ... hypospadias sydrome see Opitz G/BBB syndrome ... disease see congenital central hypoventilation syndrome ...
http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/lungsandbreathing
ghr.nlm.nih.gov
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Four novel mutations underlying mild or intermediate forms of alpha ...
... (Hurler syndrome, MPS IH) through an intermediate (Hurler/Scheie syndrome, MPS IH ... Scheie syndrome and in three patients with the Hurler/Scheie syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/7550232
www.ncbi.nlm.nih.gov
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summary
Health Information
A member of SSM Health Care. Body, Mind, Spirit... We care for the whole person. ... Scheie syndrome. Scheuermann's disease. Schilder-Addison Complex. Schistosomiasis ...
http://ssmhealth.adam.com/content.aspx?pid=1&gid=200000&sub=Disease&alpha=S
ssmhealth.adam.com
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summary
Heart and circulation - Genetics Home Reference
Hurler-Scheie Syndrome see mucopolysaccharidosis type I ... Scheie Syndrome see mucopolysaccharidosis type I. sclerosis tuberosa see tuberous sclerosis ...
http://www.ghr.nlm.nih.gov/ghr/conditionsByCategory/show/heartandcirculation
www.ghr.nlm.nih.gov
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Hurler syndrome
Hurler syndrome is an inherited disease that belongs to a group of diseases ... individuals with Hurler syndrome, but also Scheie and Hurler-Scheie syndromes. ...
http://adam.about.com/encyclopedia/001204trt.htm
adam.about.com
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summary
Mucopolysaccharidosis type I: identification of novel mutations that ...
... of novel mutations that cause Hurler/Scheie syndrome in Chinese families. ... L-iduronidase gene from two Chinese mucopolysaccharidosis type I Hurler/Scheie ...
http://www.ncbi.nlm.nih.gov/pubmed/9391892?dopt=Abstract
www.ncbi.nlm.nih.gov
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MedlinePlus Medical Encyclopedia: Sanfilippo syndrome
MPS I S (Scheie syndrome) Causes Return to top ... The syndrome is inherited as an autosomal recessive trait. ... of Sanfilippo syndrome increases one's risk ...
http://www.nlm.nih.gov/medlineplus/ency/article/001210.htm
www.nlm.nih.gov
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Mucopolysaccharidoses - Yahoo! Health
Important It is possible that the main title of the report Mucopolysaccharidoses ... MPS III A, B, C, and D (Sanfillipo Syndrome) MPS 1 H/S (Hurler/Scheie Syndrome) ...
http://health.yahoo.com/digestive-overview/mucopolysaccharid...
health.yahoo.com
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Pedbase.org - The Pediatric Database
Neonatal Seizure, Noonan Syndrome, Otitis Media, Osteosarcoma, Night Terror. N-O. N ... UTI, Wilm's Tumor, XXX Syndrome, VSD, Urticaria. U-V-W-X-Y-Z. U. V. W ...
http://www.pedbase.org/
www.pedbase.org
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Adam
Scheie syndrome (Condition) Scheuermann's disease (Condition) Schilder-Addison Complex ... Severe acute respiratory syndrome (SARS) (Condition) Sex - delayed ...
http://stvhs.adam.com/content.aspx?productId=26&pid=26&alpha=S
stvhs.adam.com
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Mucopolysaccharidosis type I - Educational resources - Information ...
Emory University Lysosomal Storage Disease Center. Madisons Foundation: Hurler syndrome. Madisons Foundation: Scheie syndrome ...
http://ghr.nlm.nih.gov/condition=mucopolysaccharidosistypei/...
ghr.nlm.nih.gov
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Disease Reference
Scheie syndrome. Scheuermann's disease. Schilder-Addison Complex. Schistosomiasis ... Senior-Loken syndrome. Sensorimotor polyneuropathy. Sensorineural hearing ...
http://adam.about.com/encyclopedia/diseidxs.htm
adam.about.com
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Mucopolysaccharidosis Type I -- GeneReviews -- NCBI Bookshelf
Attenuated MPS I (Hurler-Scheie Syndromel Scheie Syndrome) ... SCHEIE SYNDROME. Table C. Genomic Databases for Mucopolysaccharidosis Type I. Gene Symbol ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mps1
www.ncbi.nlm.nih.gov
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MedlinePlus Medical Encyclopedia: Mucopolysaccharides
Skip navigation. Medical Encyclopedia. Other encyclopedia topics: ... Hunter syndrome. Hurler syndrome. Sanfilippo syndrome. Scheie syndrome. Morquio syndrome ...
http://www.nlm.nih.gov/medlineplus/ency/article/002263.htm
www.nlm.nih.gov
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Orphanet: Recherche simple de laboratoires de diagnostic
Le portail des maladies rares et des médicaments orphelins ... Molecular diagnosis of Hurler/Scheie syndrome (MPSI, IDUA gene) ...
http://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simp...
www.orpha.net
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Mucopolysaccharidosis type I - MedlinePlus - Health information ...
Encyclopedia: Hurler syndrome. Encyclopedia: Mucopolysaccharides. Encyclopedia: Scheie syndrome. Health Topic: Metabolic Disorders. Reviewed: December 2008 ...
http://ghr.nlm.nih.gov/condition=mucopolysaccharidosistypei/show/MedlinePlus
ghr.nlm.nih.gov
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Deafness and Related Topics
Waardenburg syndrome. Waardenburg syndrome is a group of ... Scheie syndrome. Scheie syndrome is one of a number of heritable mucopolysaccharide storage ...
http://adam.about.com/od/deafnessandrelatedtopics/
adam.about.com
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Mucopolysaccharidosis Type I
Attenuated MPS I (Hurler-Scheie Syndromel Scheie Syndrome)?If development ... SCHEIE SYNDROME. Table C. Genomic Databases for Mucopolysaccharidosis Type I ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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MedlinePlus Medical Encyclopedia: Topics beginning with Mg-Mz
MPS I H see Hurler syndrome. MPS I S see Scheie syndrome. MPS III see Sanfilippo syndrome ... Mucopolysaccharidosis type I S see Scheie syndrome ...
http://www.nlm.nih.gov/medlineplus/ency/encyclopedia_Mg-Mz.htm
www.nlm.nih.gov
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PubMed Link Image
R89Q and 678-7g-->a were found to be present in 40% of Scheie syndrome alleles. ... was present in an index Scheie syndrome patient in combination with a ...
http://www.ncbi.nlm.nih.gov/pubmed/8213840
www.ncbi.nlm.nih.gov
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Brain and nervous system - Genetics Home Reference
agenesis of corpus callosum with neuronopathy see Andermann syndrome ... Hurler-Scheie Syndrome see mucopolysaccharidosis type I ...
http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/brainandnervoussystem
ghr.nlm.nih.gov
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Mitral Valve Stenosis - Yahoo! Health
But with mitral valve stenosis, the two leaflets and related structures become ... Metabolic disorders, such as Fabry's disease or Hurler-Scheie syndrome. ...
http://health.yahoo.com/heart-overview/mitral-valve-stenosis...
health.yahoo.com
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Site Map od Pedbase.org - The Pediatric Database
Pedbase Site Map. Pediatric. Site Map. Resources. Contact. PEDBASE.org - The Pediatric Database. A. B. C. D. E. F. G. H. I. J. K. L. M. N. O. P. R. S. T. U. V. W. X ...
http://pedbase.org/sitemap.html
pedbase.org
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S
A member of SSM Health Care. Body, Mind, Spirit... We care for the ... Scheie syndrome (Condition) Scheuermann's disease (Condition) Schilder-Addison Complex ...
http://ssmhealth.adam.com/content.aspx?productId=26&pid=26&a...
ssmhealth.adam.com
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Loyola University Health System
myLoyola provides you a customized interaction with Loyola University Health System based on age group, gender, ... Scheie syndrome (Condition) Scheuermann's ...
http://loyolauniversity.adam.com/content.aspx?productId=26&alpha=S
loyolauniversity.adam.com
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MedlinePlus Medical Encyclopedia: Morquio syndrome
The syndrome belongs to a group of diseases called ... MPS I S (Scheie syndrome) Causes Return to top. Morquio syndrome is an autosomal recessive trait. ...
http://www.nlm.nih.gov/medlineplus/ency/article/001206.htm
www.nlm.nih.gov
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Mucopolysaccharides
Search. Health Topics A-Z. Home. Health. Health Topics A-Z. Email ... Hunter syndrome. Hurler syndrome. Sanfilippo syndrome. Scheie syndrome. Morquio syndrome ...
http://adam.about.com/encyclopedia/Mucopolysaccharides.htm?p=1
adam.about.com
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607016
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607016
www.ncbi.nlm.nih.gov
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Morquio syndrome - Wikipedia, the free encyclopedia
Morquio's syndrome (referred to as mucopolysaccharidosis IV or ... 1:Hurler/Scheie · 2:Hunter · 3:Sanfilippo ABCD · 4:Morquio · 6:Maroteaux-Lamy · 7:Sly ...
http://en.wikipedia.org/wiki/Morquio_syndrome
en.wikipedia.org
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OMIM Update List for November, 2005
607014 HURLER SYNDROME. 607016 SCHEIE SYNDROME ... 193700 FREEMAN-SHELDON SYNDROME; FSS ... 300352 CREATINE DEFICIENCY SYNDROME, X-LINKED ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?11.2005
www.ncbi.nlm.nih.gov
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Sanfilippo Syndrome - Wikipedia
User-edited article about the rare genetic disease Sanfilippo Syndrome.
http://en.wikipedia.org/wiki/Sanfilippo_syndrome
en.wikipedia.org
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HURLER SYNDROME - Pedbase.org
... (severe) and Scheie (mild) syndromes represent phenotypes at opposite ends of the ... carpal tunnel syndrome - peripheral nerve compression ...
http://www.pedbase.org/h/hurler-syndrome
www.pedbase.org
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OMIM Update List for April, 2009
300624 FRAGILE X MENTAL RETARDATION SYNDROME ... 603554 OMENN SYNDROME ... 607015 HURLER-SCHEIE SYNDROME. 607016 SCHEIE SYNDROME ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?4.2009
www.ncbi.nlm.nih.gov
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Sly syndrome - Wikipedia, the free encyclopedia
Sly syndrome belongs to a group of disorders known as mucopolysaccharidoses, ... 1:Hurler/Scheie · 2:Hunter · 3:Sanfilippo ABCD · 4:Morquio · 6:Maroteaux-Lamy · 7:Sly ...
http://en.wikipedia.org/wiki/Sly_syndrome
en.wikipedia.org
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Wyeth.com | ADAM
Wyeth pharmaceutical company brings health care products, medicines and vaccines that aim to ... Scheie syndrome. Scheuermann's disease. Schilder-Addison ...
http://wyeth.adam.com/content.aspx?productId=101&alpha=S
wyeth.adam.com
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MERCK MANUALS
Scheie syndrome; 607015) ?-L-Iduronidase. IDUA (4p16.3)* Onset: For I-H, 1st yr ... Clinical features: Similar to Hurler's syndrome but milder and no corneal clouding ...
http://www.merck.com/media/mmpe/pdf/Table_296-4w.pdf
www.merck.com
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Orphanet: Mucopolysaccharidosis type 1
The portal for rare diseases and orphan drugs ... Patients with the adult onset form (Scheie syndrome or MPS I-S) are of almost ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=579
www.orpha.net
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OMIM Update List for August, 2008
272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME ... 607016 SCHEIE SYNDROME. 607562 INTERLEUKIN 23 RECEPTOR; IL23R ... 263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?8.2008
www.ncbi.nlm.nih.gov
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MUCOPOLYSACCHARIDOSIS - Pedbase.org
1962 Scheie. first described the Scheie type. 1963 Sanfilippo. first described the Sanfilippo type ... carpal tunnel syndrome. 3. Other Manifestations. 1. Respiratory ...
http://pedbase.org/m/mucopolysaccharidosis/
pedbase.org
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