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what is 'Sjogren-Larsson Syndrome - rare inherited disorder with thickened skin '?
Definition for Sjogren-Larsson Syndrome
Sjogren-Larsson syndrome (or Rud's syndrome) is a form of ichthyosis associated with a deficiency of the enzyme "fatty aldehyde dehydrogenase".
do i have 'Sjogren-Larsson Syndrome'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'Sjogren-Larsson Syndrome'
1 - 5 of
19
diagnostic tests
Biopsy skin
Sjogren-Larsson Syndrome and Biopsy skin
Brain MRI
Sjogren-Larsson Syndrome and Brain MRI
EEG - Electroencephalogram
Sjogren-Larsson Syndrome and EEG - Electroencephalogram
Amniocentesis
Sjogren-Larsson Syndrome and Amniocentesis
Chorionic Villus Sampling (CVS)
Sjogren-Larsson Syndrome and Chorionic Villus Sampling (CVS)
fatty alcohols (hexadecanol and octadecanol) in plasma
Sjogren-Larsson Syndrome and fatty alcohols (hexadecanol and octadecanol) in plasma
free fatty aldehyde
Sjogren-Larsson Syndrome and free fatty aldehyde
CT brain
Sjogren-Larsson Syndrome and CT brain
Magnetic Resonance Imaging (MRI) Spectroscopy
procedure to determine structure of molecules
Sjogren-Larsson Syndrome and Magnetic Resonance Imaging (MRI) Spectroscopy
fetal skin biopsy
Sjogren-Larsson Syndrome and fetal skin biopsy
urinary leukotriene B4 (LTB4) and metabolites
Sjogren-Larsson Syndrome and urinary leukotriene B4 (LTB4) and metabolites
CT scan
Sjogren-Larsson Syndrome and CT scan
Developmental testing
Sjogren-Larsson Syndrome and Developmental testing
cultured skin fibroblasts for biochemical study
Sjogren-Larsson Syndrome and cultured skin fibroblasts for biochemical study
direct enzymatic assay in fibroblasts
Sjogren-Larsson Syndrome and direct enzymatic assay in fibroblasts
fatty alcohol NAD oxidoreductase (FAO) in cultured skin fibroblasts
Sjogren-Larsson Syndrome and fatty alcohol NAD oxidoreductase (FAO) in cultured skin fibroblasts
fatty alcohol NAD oxidoreductase (FAO) in white blood cells
Sjogren-Larsson Syndrome and fatty alcohol NAD oxidoreductase (FAO) in white blood cells
fatty aldehyde dehydrogenase (FALDH) in cultured skin fibroblasts
Sjogren-Larsson Syndrome and fatty aldehyde dehydrogenase (FALDH) in cultured skin fibroblasts
fatty aldehyde dehydrogenase (FALDH) in white blood cells
Sjogren-Larsson Syndrome and fatty aldehyde dehydrogenase (FALDH) in white blood cells
for more please login, login is free (click to login)
therapeutic procedures for 'Sjogren-Larsson 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 Sjogren-Larsson Syndrome:
therapeutic procedure search results for 'Sjogren-Larsson Syndrome'
1 - 2 of
2
therapeutic procedures
rankings are computer generated. please consult your health care provider.
Physical and Occupational Therapy
Arthritis Physical and Occupational Therapy
Sjogren-Larsson Syndrome and Physical and Occupational Therapy
Fetoscopy
Sjogren-Larsson Syndrome and Fetoscopy
medications search results for 'Sjogren-Larsson Syndrome'
1 - 5 of
5
medications
rankings are computer generated. please consult your health care provider.
Urea
Sjogren-Larsson Syndrome and Urea
Mineral oil
Sjogren-Larsson Syndrome and Mineral oil
Acitretin
Sjogren-Larsson Syndrome and Acitretin
leukotriene synthesis inhibitors
Sjogren-Larsson Syndrome and leukotriene synthesis inhibitors
Calcipotriene
Sjogren-Larsson Syndrome and Calcipotriene
web search results for 'Sjogren-Larsson Syndrome'?
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Drugs
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Tests
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Diet
Results
1 - 50
- Sjogren-Larsson Syndrome
10086857 1999 04 21 1999 04 21 2006 11 15 0001-5555 79 1 1999 Jan Acta ...
... give further evidence of Sjogren-Larsson syndrome being a homogeneous disorder. ... Male Microsatellite Repeats Sjogren-Larsson Syndrome genetics Sweden ethnology ...
http://www.ncbi.nlm.nih.gov/pubmed/10086857
www.ncbi.nlm.nih.gov
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ALDH3A2 - NextBio
... the gene cause Sjogren-Larsson syndrome. view more " Gene ... Sjogren-Larsson syndrome. Pentisomicin. Dentate gyrus of hippocam... cancer of hypopharynx ...
http://www.nextbio.com/b/home/home.nb?id=910&type=feature
www.nextbio.com
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summary
MedlinePlus: Leukodystrophies
Leukodystrophies ... Sjogren-Larsson Syndrome(United Leukodystrophy Foundation) ... Zellweger Syndrome(National Institute of Neurological Disorders and Stroke) ...
http://www.nlm.nih.gov/medlineplus/leukodystrophies.html
www.nlm.nih.gov
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summary
Ichthyosis
Important It is possible that the main title of the report ... Rud's syndrome. Sjogren-Larsson syndrome. Tay's syndrome (trichothiodystrophy, IBIDS syndrome) ...
http://www.webmd.com/skin-problems-and-treatments/ichthyosis-10777
www.webmd.com
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summary
[Sjögren-Larsson syndrome]
2000 Apr;51(4):250-5. [Sjögren-Larsson syndrome] [Article in German] ... Sjogren-Larsson Syndrome/diagnosis. Sjogren-Larsson Syndrome/genetics* Substances: ...
http://www.ncbi.nlm.nih.gov/pubmed/10810660
www.ncbi.nlm.nih.gov
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Ichthyosis - Yahoo! Health
Important It is possible that the main title of the report ... Rud's syndrome. Sjogren-Larsson syndrome. Tay's syndrome (trichothiodystrophy, IBIDS syndrome) ...
http://health.yahoo.com/skinconditions-resources/ichthyosis/...
health.yahoo.com
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summary
medical terms, dictionary and encyclopedia
SLS (Sjogren-Larsson syndrome) Sludge, biliary. SLV. Sly syndrome. Back to Top. Sm-Sn ... Syndrome, Sjogren. Syndrome, Sjogren's. Syndrome, Sjogren-Larsson ...
http://www.medicinenet.com/htmlalphaidx/dict_S.htm
www.medicinenet.com
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Sjögren-Larsson syndrome - Wikipedia, the free encyclopedia
Sjögren-Larsson syndrome. From Wikipedia, the free encyclopedia. Jump to: ... Sjögren-Larsson syndrome is a autosomal recessive form of ... SJOGREN T, ...
http://en.wikipedia.org/wiki/Sj%C3%B6gren-Larsson_syndrome
en.wikipedia.org
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summary
11929038 2002 04 03 2002 04 23 2004 11 17 0019-5456 69 2 2002 Feb ...
193-4 Sjogren-Larsson Syndrome is a rare autosomal disorder which occurs with ... Up Studies Humans Sjogren-Larsson Syndrome diagnosis rehabilitation 2002 4 ...
http://www.ncbi.nlm.nih.gov/pubmed/11929038
www.ncbi.nlm.nih.gov
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summary
Novel ALDH3A2 heterozygous mutations in a Japanese family with Sjögren ...
Sjogren-Larsson Syndrome/diagnosis. Sjogren-Larsson Syndrome/genetics* Sjogren-Larsson Syndrome/pathology. Substances: Aldehyde Oxidoreductases ...
http://www.ncbi.nlm.nih.gov/pubmed/16794583
www.ncbi.nlm.nih.gov
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summary
Ichthyosis, Sjogren Larsson Syndrome - Yahoo! Health
Important It is possible that the main title of the report Ichthyosis, Sjogren Larsson Syndrome is not the name you expected. Please check the synonyms listing to ...
http://health.yahoo.com/skinconditions-overview/ichthyosis-s...
health.yahoo.com
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summary
Ichthyosis, Sjogren Larsson Syndrome
Important It is possible that the main title of the report Ichthyosis, Sjogren Larsson Syndrome is not the name you expected. Please check the synonyms listing to ...
http://www.webmd.com/skin-problems-and-treatments/ichthyosis...
www.webmd.com
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summary
Sjögren-Larsson syndrome: molecular genetics and biochemical ...
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by ... Sjogren-Larsson Syndrome/diagnosis. Sjogren-Larsson Syndrome/enzymology ...
http://www.ncbi.nlm.nih.gov/pubmed/16996289
www.ncbi.nlm.nih.gov
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summary
Abnormal fatty alcohol metabolism in cultured keratinocytes from ...
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder ... Sjogren-Larsson Syndrome/enzymology. Sjogren-Larsson Syndrome/genetics ...
http://www.ncbi.nlm.nih.gov/pubmed/17971613
www.ncbi.nlm.nih.gov
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2009 MeSH Tree Structures. C16 - Congenital, Hereditary, and Neonatal ...
Sjogren-Larsson Syndrome [C16.131.831.512.723] Incontinentia Pigmenti ... Sjogren-Larsson Syndrome [C16.614.492.723] Infant, Premature, Diseases [C16.614.521] ...
http://www.nlm.nih.gov/mesh/2009/mesh_trees/C16.html
www.nlm.nih.gov
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Encyclopedia I-Iz on Yahoo! Health
Health encyclopedia of diseases and conditions covering symptoms, definitions, ... Ichthyosis, Netherton Syndrome. Ichthyosis, Sjogren Larsson Syndrome ...
http://health.yahoo.com/ency/i/
health.yahoo.com
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WebMD Health A-Z - Find reliable health and medical information on ...
Ichthyosis Netherton Syndrome. Ichthyosis Simplex. Ichthyosis Sjogren Larsson Syndrome. Ichthyosis Spastic Neurolic Disorder Oli...
http://www.webmd.com/a-to-z-guides/health-topics/ia-ie.htm
www.webmd.com
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Sjögren-Larsson syndrome: early diagnosis, dietary management and ...
BACKGROUND: Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive ... Sjogren-Larsson Syndrome/diagnosis* Sjogren-Larsson Syndrome/diet therapy* Substances: ...
http://www.ncbi.nlm.nih.gov/pubmed/10449931
www.ncbi.nlm.nih.gov
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emailAFriend
Ichthyosis, Sjogren Larsson Syndrome * Indicates required fields. From: Your Name: ... Clicking the send button signifies that you have read and agree to our ...
http://www.webmd.com/email_friend?chronicID=091e9c5e8001ef80
www.webmd.com
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2009 MeSH Tree Structures. C17 - Skin and Connective Tissue Diseases
Sjogren-Larsson Syndrome [C17.800.428.333.723] Keratoderma, ... Sjogren-Larsson Syndrome [C17.800.827.820] Trichothiodystrophy Syndromes [C17.800.827.895] ...
http://www.nlm.nih.gov/mesh/2009/mesh_trees/C17.html
www.nlm.nih.gov
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[Sjögren's syndrome: clinical and therapeutic features. A review of the ...
Sjogren-Larsson Syndrome*/complications. Sjogren-Larsson Syndrome*/diagnosis. Sjogren-Larsson Syndrome*/etiology. Sjogren-Larsson Syndrome*/therapy ...
http://www.ncbi.nlm.nih.gov/pubmed/15041916?dopt=Abstract
www.ncbi.nlm.nih.gov
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Interleukin-4 receptor alpha polymorphisms in primary Sjögren's syndrome.
Sjogren-Larsson Syndrome/blood. Sjogren-Larsson Syndrome/genetics* Sjogren-Larsson Syndrome/physiopathology. Substances: Receptors, Interleukin-4. DNA ...
http://www.ncbi.nlm.nih.gov/pubmed/15144136
www.ncbi.nlm.nih.gov
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Adeno-associated virus vectors are able to restore fatty aldehyde ...
Implications for gene therapy in Sjogren-Larsson syndrome. Haug S, Braun-Falco M. ... Sjogren-Larsson Syndrome (SLS) is caused by an autosomal recessive defect in the ...
http://www.ncbi.nlm.nih.gov/pubmed/15834613
www.ncbi.nlm.nih.gov
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Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G-->C ...
Sjogren-Larsson Syndrome/diagnosis. Sjogren-Larsson Syndrome/genetics* Sjogren-Larsson Syndrome/pathology. Substances: RNA Splice Sites. Aldehyde Oxidoreductases ...
http://www.ncbi.nlm.nih.gov/pubmed/16536828
www.ncbi.nlm.nih.gov
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2008 MeSH Tree Structures. C18 - Nutritional and Metabolic Diseases
Sjogren-Larsson Syndrome [C18.452.584.687.723] Sphingolipidoses [C18.452.584.687.803] ... Sjogren-Larsson Syndrome [C18.452.648.398.641.723] Sphingolipidoses ...
http://www.nlm.nih.gov/mesh/trees2008/C18.html
www.nlm.nih.gov
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A missense mutation in the FALDH gene identified in Sjögren-Larsson ...
Sjögren-Larsson syndrome (SLS) is an autosomal recessive ... Sjogren-Larsson Syndrome/epidemiology. Sjogren-Larsson Syndrome/genetics* Sweden/epidemiology ...
http://www.ncbi.nlm.nih.gov/pubmed/9254849
www.ncbi.nlm.nih.gov
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Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome.
The Sjögren-Larsson Syndrome (SLS) is a neurocutaneous disorder, caused by ... Sjogren-Larsson Syndrome/enzymology* Substances: Arachidonic Acid. Leukotriene B4 ...
http://www.ncbi.nlm.nih.gov/pubmed/11166796
www.ncbi.nlm.nih.gov
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Sjögren-Larsson syndrome: biochemical defects and follow up in three cases.
Sjögren-Larsson syndrome is a rare disorder that consists of congenital ... Sjogren-Larsson Syndrome/genetics. Skin/enzymology* Substances: Aldehyde Oxidoreductases ...
http://www.ncbi.nlm.nih.gov/pubmed/11978568
www.ncbi.nlm.nih.gov
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Identification of fatty aldehyde dehydrogenase in the breakdown of ...
... patients affected by Sjögren Larsson syndrome (SLS), known to ... Sjogren-Larsson Syndrome/enzymology* Sjogren-Larsson Syndrome/metabolism. Substances: ...
http://www.ncbi.nlm.nih.gov/pubmed/15110319
www.ncbi.nlm.nih.gov
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Physiological and pathological implications of laminins: from the gene ...
... erythematosus and Sjögren's syndrome (SS) are also ... Sjogren-Larsson Syndrome/genetics. Sjogren-Larsson Syndrome/metabolism. Substances: Laminin ...
http://www.ncbi.nlm.nih.gov/pubmed/17453709
www.ncbi.nlm.nih.gov
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Oral sugar clearance and other caries-related factors of stimulated ...
RESULTS: Patients with secondary Sjögren syndrome and with low salivary flow had ... Sjogren-Larsson Syndrome/metabolism. Sjogren-Larsson Syndrome/physiopathology ...
http://www.ncbi.nlm.nih.gov/pubmed/17510724
www.ncbi.nlm.nih.gov
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juillet ...
... antiphospholipides 6 0.02% syndrome gougerot sjogren 6 0.02% síndrome ... totalis 3 0.01% sjogren larsson 3 0.01% slo syndrome 3 0.01% smith-lemli-opitz 3 ...
http://orphanet.orpha.net/stat/orphanet/search_200607.html
orphanet.orpha.net
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PMID:8528251
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. ... Homology, Amino Acid Sjogren-Larsson Syndrome enzymology genetics 1996 1 ...
http://www.ncbi.nlm.nih.gov/pubmed/8528251
www.ncbi.nlm.nih.gov
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AceView: gene:ALDH3A2, a comprehensive annotation of human, mouse and ...
AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co ... Mutations in the gene cause Sjogren-Larsson syndrome. ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&l=ALDH3A2
www.ncbi.nlm.nih.gov
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OMIM Update List for March, 2001
... LONG QT SYNDROME 1. 203200 OCULOCUTANEOUS ... 248800 MARINESCO-SJOGREN SYNDROME; MSS. 253220 MUCOPOLYSACCHARIDOSIS TYPE VII. 270200 SJOGREN-LARSSON SYNDROME ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2001
www.ncbi.nlm.nih.gov
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Karl Sjögren - Wikipedia, the free encyclopedia
Sjögren-Larsson syndrome is named for him (along with Tage Larsson). [2][3] Marinesco-Sjogren syndrome is also named for him. ... SJOGREN T, LARSSON T (1957) ...
http://en.wikipedia.org/wiki/Karl_Sj%C3%B6gren
en.wikipedia.org
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Decembre ...
... gougerot sjogren 16 0.04% hipercolesterolemia familiar 16 0.04% icf syndrome 16 ... 0.01% doenįa de sjogren 4 0.01% donnai barrow syndrome 4 0.01% douleurs ...
http://orphanet.orpha.net/stat/orphanet/search_200612.html
orphanet.orpha.net
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PubMed Link Image
1077-81 Sjögren-Larsson syndrome (SLS) is an inherited disorder associated with ... cytology metabolism Humans Male Sjogren-Larsson Syndrome metabolism 2000 7 7 11 ...
http://www.ncbi.nlm.nih.gov/pubmed/10884288
www.ncbi.nlm.nih.gov
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PubMed Link Image
965-9 Sjögren-Larsson syndrome (SLS) is a metabolic disorder characterized by ... Diagnosis methods Sjogren-Larsson Syndrome diagnosis metabolism Time Factors ...
http://www.ncbi.nlm.nih.gov/pubmed/16435189
www.ncbi.nlm.nih.gov
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16525484 2006 06 20 2006 09 15 2006 11 15 0969-7128 13 13 2006 Jul Gene ...
1021-6 Sjögren-Larsson syndrome (SLS) is an autosomal recessive neurocutaneous ... administration & dosage Humans Keratinocytes enzymology Sjogren-Larsson Syndrome ...
http://www.ncbi.nlm.nih.gov/pubmed/16525484
www.ncbi.nlm.nih.gov
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Gluten sensitivity in patients with primary Sjögren's syndrome.
... 15 of the Sjögren's syndrome (SS) patients reported gastrointestinal symptoms, ... Sjogren-Larsson Syndrome/complications* Substances: Glutens ...
http://www.ncbi.nlm.nih.gov/pubmed/17613926
www.ncbi.nlm.nih.gov
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PubMed Link Image
Mutations associated with Sjögren-Larsson syndrome. ... Reaction Sequence Analysis, DNA Sjogren-Larsson Syndrome genetics 1997 5 1 1997 ...
http://www.ncbi.nlm.nih.gov/pubmed/9250352
www.ncbi.nlm.nih.gov
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mars 2007 ...
... situs inversus 20 0.03% syndrome de gougerot sjogren 20 0.03% trisomia 13 20 ... sinovite 5 0.01% sinovite vilonodular pigmentosa 5 0.01% sjogren syndrome 5 0.01 ...
http://orphanet.orpha.net/stat/orphanet/search_200703.html
orphanet.orpha.net
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Spectrum of mutations and sequence variants in the FALDH gene in ...
... causing Sjögren-Larsson syndrome (SLS) when mutated. ... Sjogren-Larsson Syndrome/genetics* Spain. Sweden. Turkey. Substances: DNA. Aldehyde Oxidoreductases ...
http://www.ncbi.nlm.nih.gov/pubmed/9829906
www.ncbi.nlm.nih.gov
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juillet ...
... 32 0.03% sjogren 32 0.03% sordera progresiva 32 0.03% syndrome de klinefelter 31 ... 10 0.01% gougerot-sjogren 10 0.01% hair-an syndrome 10 0.01% hamartoma ...
http://orphanet.orpha.net/stat/orphanet/search_200707.html
orphanet.orpha.net
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OMIM Update List for July, 1999
270200 SJOGREN-LARSSON SYNDROME ... 602667 NIJMEGEN BREAKAGE SYNDROME GENE; NBS1 ... 238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.1999
www.ncbi.nlm.nih.gov
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le don du FARON
Le syndrome de Sjögren-Larsson. Les Statuts. Objectifs de l'Association. La ... doit aider les enfants atteints par le syndrome de Sjogren-Larsson ā financer ...
http://asso.orpha.net/SLSL/__PP__16.html
asso.orpha.net
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Preventing Chronic Disease: April 2006: 05_0167
"The depression-executive dysfunction syndrome of late life": a specific ... Gislason TB, Sjogren M, Larsson L, Skoog I. The prevalence of frontal variant ...
http://www.cdc.gov/pcd/issues/2006/apr/05_0167.htm
www.cdc.gov
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Aout 2006 ...
... 0.02% sjogren 8 0.02% syndrome de gitelman 8 0.02% syringomyelie 8 0.02 ... 6 0.01% syndrome de gougerot sjogren 6 0.01% syndrome de gougerot-sjögren ...
http://www.orpha.net/stat/orphanet/search_200608.html
www.orpha.net
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MIM Gene map
Sjogren-Larsson syndrome, 270200 (3) Fd, LD. 17p11.2. ATPAF2, ATP12 ... Birt-Hogg-Dube syndrome, 135150 (3); Pneumothorax, primaryspontaneous, 173600 (3) ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l270200
www.ncbi.nlm.nih.gov
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quick facts
category
dermatology
genetic or congenital
frequency
rare (U.S.)
likelihood by age
likelyhood by duration of symptoms
some common symptoms
delayed development
paralysis
rash
scaly patches on skin
some related diagnoses
neurofibromatosis type 1
systemic lupus erythematosis
hereditary hemorrhagic telangiectasia
variegate porphyria
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