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クラッベ病 - 神経系の珍しい遺伝変性
に定義されています クラッベ病
Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system.
よりたくさんの
Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. This condition is inherited in an autosomal recessive pattern.
less
いくつかの共通の現象
痙攣
発達の遅れ
had convulsions but not seizing now
筋硬直
いくつかの関連診断
1 - 7 of
9
診断
頭蓋内動静脈奇形
多発性硬化症
欠神発作
ヒト免疫不全ウイルス感染症
水頭症
脳性麻痺
バッテン病
より
私はありますか? 'クラッベ病'?
加えて、以下の診断テストをされるとの診断に役立つかどうかを確認する必要があります:
診断テストの検索結果を得るために 'クラッベ病'
1 - 5 of
22
診断テスト
脳脊髄液の分析
クラッベ病 および 脳脊髄液の分析
脳波 - 脳波
クラッベ病 および 脳波 - 脳波
腰椎穿刺
クラッベ病 および 腰椎穿刺
羊水
クラッベ病 および 羊水
絨毛は、CVSをサンプリング絨毛
クラッベ病 および 絨毛は、CVSをサンプリング絨毛
培養線維芽細胞のGalactocerebrosidase GALCの活動
クラッベ病 および 培養線維芽細胞のGalactocerebrosidase GALCの活動
白血球細胞のGalactocerebrosidase GALCの活動
クラッベ病 および 白血球細胞のGalactocerebrosidase GALCの活動
脳MRI検査
クラッベ病 および 脳MRI検査
CTの脳
クラッベ病 および CTの脳
筋電図筋電図
クラッベ病 および 筋電図筋電図
ビジュアルは、潜在的なVEPのを誘発
クラッベ病 および ビジュアルは、潜在的なVEPのを誘発
生検のスキンです
クラッベ病 および 生検のスキンです
脳のMR分光法
クラッベ病 および 脳のMR分光法
生検脳
クラッベ病 および 生検脳
脳脊髄液のタンパク電気泳動
クラッベ病 および 脳脊髄液のタンパク電気泳動
脳幹聴覚誘発反応ベール
クラッベ病 および 脳幹聴覚誘発反応ベール
CTスキャン
クラッベ病 および CTスキャン
包括的な目の試験を受けます
クラッベ病 および 包括的な目の試験を受けます
発達テスト
クラッベ病 および 発達テスト
生化学的研究のための培養皮膚線維芽細胞
クラッベ病 および 生化学的研究のための培養皮膚線維芽細胞
direct enzymatic assay in fibroblasts
クラッベ病 および direct enzymatic assay in fibroblasts
白血球細胞に直接酵素アッセイ
クラッベ病 および 白血球細胞に直接酵素アッセイ
詳細については、ログインしてください、ログイン情報(クリックしてログインする)無料です
治療の手順を 'クラッベ病'?
常に患者さんの健康管理や介護のプロバイダによって決定されるべき疾患の治療. 下記の手順または関連する治療薬の一覧です Krabbe disease:
治療の手順の検索結果 'クラッベ病'
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治療の手順
ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください.
臍帯血移植
クラッベ病 および 臍帯血移植
造血細胞の移植幹
クラッベ病 および 造血細胞の移植幹
骨髄移植
クラッベ病 および 骨髄移植
胎児治療
クラッベ病 および 胎児治療
組織適合試験
クラッベ病 および 組織適合試験
物理的および作業療法
Arthritis Physical and Occupational Therapy
クラッベ病 および 物理的および作業療法
詳細については、ログインしてください、ログイン情報(クリックしてログインする)無料です
薬の検索結果 'クラッベ病'
ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください.
ウェブ検索結果調査のための クラッベ病
ウェブ(すべて)
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薬
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テスト
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ダイエット
その結果
1 - 50
- クラッベ病
Krabbe disease
... the GALC gene causes Krabbe disease. ... Krabbe disease is inherited, which means that it runs ... can be done to see if you carry the gene for Krabbe disease. ...
http://adam.about.com/encyclopedia/infectiousdiseases/Krabbe...
adam.about.com
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summary
Krabbe disease - Wikipedia, the free encyclopedia
Krabbe disease is caused by mutations in the GALC gene, which causes a ... A more detailed review of Krabbe's disease. The Stennis Foundation ...
http://en.wikipedia.org/wiki/Krabbe_disease
en.wikipedia.org
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summary
Krabbe Disease -- GeneReviews -- NCBI Bookshelf
... form of Krabbe disease present with the ... All individuals with Krabbe disease have very low GALC enzyme activity (0%-5% of ... Infantile Krabbe disease. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=krabbe
www.ncbi.nlm.nih.gov
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summary
Krabbe Disease
Krabbe disease is a rare, inherited degenerative disorder of the central and ... Krabbe disease is one of a group of genetic disorders called the leukodystrophies. ...
http://www.ninds.nih.gov/disorders/krabbe/xml_krabbe.xml
www.ninds.nih.gov
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summary
Krabbe Disease - Genetics Home Reference
Offers diseases description, genetic changes, treatment, and online resources about Krabbe disease.
http://ghr.nlm.nih.gov/condition=krabbedisease
ghr.nlm.nih.gov
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summary
Orphanet: Krabbe disease
The portal for rare ... Krabbe disease. Orpha number. ORPHA487. Prevalence of rare diseases ... Krabbe's disease, also called globoid cell ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=487
www.orpha.net
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summary
Krabbe Disease
In almost all individuals with Krabbe disease, galactocerebrosidase ... Individuals with the infantile form of Krabbe disease present with the following: ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
Krabbe Disease Press Releases: National Institute of Neurological ...
Krabbe Disease information sheet ... Krabbe Disease. Information Page. Publications. Organizations. News ... press releases for Krabbe Disease at this time. ...
http://www.ninds.nih.gov/disorders/krabbe/press_krabbe.htm
www.ninds.nih.gov
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summary
Krabbe disease - MedlinePlus - Health information - Genetics Home Reference
Genetic Conditions > Krabbe disease > MedlinePlus - Health information ... Home Reference condition summary on Krabbe disease. Encyclopedia: Krabbe disease ...
http://ghr.nlm.nih.gov/condition=krabbedisease/show/MedlinePlus
ghr.nlm.nih.gov
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summary
Krabbe Disease Publications: National Institute of Neurological ...
Krabbe Disease information sheet compiled by NINDS. ... Sorry, there are no other publications for Krabbe Disease at this time. ...
http://www.ninds.nih.gov/disorders/krabbe/pubs_krabbe.htm?css=print
www.ninds.nih.gov
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summary
Krabbe disease - Patient support - For patients and families - Genetics ...
Genetic Conditions > Krabbe disease > Patient support - For patients and families ... information in the Genetics Home Reference condition summary on Krabbe disease. ...
http://ghr.nlm.nih.gov/condition=krabbedisease/show/Patient+support
ghr.nlm.nih.gov
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summary
[Early infantile and late infantile form of Krabbe disease: CT and MRI ...
... in three patients with Krabbe disease: early infantile, late infantile ... and 9 months old respectively with Krabbe disease, were studied with CT and MR. ...
http://www.ncbi.nlm.nih.gov/pubmed/17715604
www.ncbi.nlm.nih.gov
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summary
Krabbe Disease (Globoid Cell Leukodystrophy) - MayoClinic
Brief overview of the rare, inherited degenerative disorder of the nervous system.
http://www.mayoclinic.com/health/krabbe-disease/DS00937
www.mayoclinic.com
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summary
Krabbe Disease - MedlinePlus Medical Encylopedia
Fact sheet on the inherited disorder, also known as globoid cell leukodystrophy, in which the deficiency of an enzyme causes the death of a child's brain cells.
http://www.nlm.nih.gov/medlineplus/ency/article/001198.htm
www.nlm.nih.gov
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summary
Peripheral neuropathy in Krabbe disease: effect of hematopoietic stem ...
Peripheral neuropathy in Krabbe disease: effect of hematopoietic stem cell transplantation. ... of Krabbe disease (KD) if performed early in the disease. ...
http://www.ncbi.nlm.nih.gov/pubmed/16864820
www.ncbi.nlm.nih.gov
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summary
Fighting Krabbe's Disease With Jim Kelly - MedicineNet
Transcript of an interview with Jim Kelly, the former Buffalo Bills quarterback, discussing the management of Krabbe's disease which affected his son.
http://www.medicinenet.com/script/main/art.asp?articlekey=54315
www.medicinenet.com
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summary
Peripheral nerve involvement in Krabbe disease: a guide to therapy ...
2006 Jul 25;67(2):263-7. Neurology. 2006 Jul 25;67(2):268-72. Peripheral nerve involvement in Krabbe disease: a guide to therapy selection and ...
http://www.ncbi.nlm.nih.gov/pubmed/16864808
www.ncbi.nlm.nih.gov
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summary
Krabbe Disease Information Page - NINDS
Fact sheet on the rare, inherited degenerative disorder of the central and peripheral nervous systems. From the National Institute of Neurological Diseases and Stroke.
http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm
www.ninds.nih.gov
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summary
Krabbe disease - Related Gene(s) - Genetics Home Reference
Genetic Conditions > Krabbe disease > Related Gene(s) GALC: galactosylceramidase ... Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/condition=krabbedisease/show/Related+Gene(s)
ghr.nlm.nih.gov
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summary
Krabbe disease - MayoClinic.com
Krabbe disease â?" Comprehensive overview covers symptoms, causes, treatment of this central ... Krabbe disease may be best known in the United States for ...
http://www.mayoclinic.com/health/krabbe-disease/DS00937/METHOD=print
www.mayoclinic.com
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summary
Krabbe disease
Krabbe disease is an inherited disorder characterized by a deficiency of the ... There is no specific treatment for Krabbe disease. ...
http://adam.about.com/encyclopedia/001198trt.htm
adam.about.com
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summary
Adam
... the GALC gene causes Krabbe disease. ... Krabbe disease is inherited, which means that it runs ... can be done to see if you carry the gene for Krabbe disease. ...
http://stvhs.adam.com/content.aspx?productId=101&pid=1&gid=001198
stvhs.adam.com
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summary
Krabbe disease: Causes - MayoClinic.com
Krabbe disease â?" Comprehensive overview covers symptoms, causes, treatment of this central ... sometimes refer to Krabbe disease as globoid cell ...
http://www.mayoclinic.com/health/krabbe-disease/DS00937/DSECTION=causes
www.mayoclinic.com
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summary
Hereditary CNS demyelinating disease - Wikipedia, the free encyclopedia
Alexander disease. Canavan disease. Krabbe disease ... Fabry's disease. Galactocerebroside. sulfated: Leukodystrophy (Krabbe disease) Ceramide ...
http://en.wikipedia.org/wiki/Hereditary_CNS_demyelinating_disease
en.wikipedia.org
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summary
Leukodystrophy
Important It is possible that the main title of the report Leukodystrophy is not ... Krabbe Disease. X-linked Adrenoleukodystrophy. Multiple Sulfatase Deficiency ...
http://www.webmd.com/brain/leukodystrophy-10644
www.webmd.com
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summary
Krabbe disease: Risk factors - MayoClinic.com
Krabbe disease â?" Comprehensive overview covers symptoms, causes, treatment of this central ... Krabbe disease occurs more often in people of Scandinavian ...
http://www.mayoclinic.com/health/krabbe-disease/DS00937/DSECTION=risk-factors
www.mayoclinic.com
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summary
Krabbé Disease
Krabbé disease is a rare, inherited degenerative disorder of the central and ... Krabbé disease is one of a group of genetic disorders called the leukodystrophies. ...
http://my.clevelandclinic.org/disorders/krabbe_disease_globo...
my.clevelandclinic.org
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summary
Lysosomal Storage Disorders: Inherited Disorders of Metabolism: Merck ...
Krabbe's Disease. Krabbe's disease is a sphingolipidosis that causes ... Krabbe's disease (galactosylceramide lipidosis, globoid cell leukodystrophy) is ...
http://www.merck.com/mmpe/sec19/ch296/ch296f.html
www.merck.com
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summary
Krabbe disease: Symptoms - MayoClinic.com
Krabbe disease â?" Comprehensive overview covers symptoms, causes, treatment of this central ... more common form of Krabbe disease, which develops in the ...
http://www.mayoclinic.com/health/krabbe-disease/DS00937/DSECTION=symptoms
www.mayoclinic.com
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summary
Krabbe disease - References - Genetics Home Reference
Gene Review: Krabbe Disease. National Institute of Neurological Disorders ... Suzuki K. Globoid cell leukodystrophy (Krabbe's disease): update. J Child Neurol. ...
http://ghr.nlm.nih.gov/condition=krabbedisease/show/References
ghr.nlm.nih.gov
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summary
Krabbe Disease Organizations: National Institute of Neurological ...
Krabbe Disease information sheet compiled by NINDS. ... Krabbe Disease. Information Page. Publications. Organizations. News. Research literature ...
http://www.ninds.nih.gov/disorders/krabbe/org_krabbe.htm?css=print
www.ninds.nih.gov
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summary
List of incurable diseases - Wikipedia, the free encyclopedia
Batten disease (juvenile neuronal ceroid lipofuscinosis) ... Krabbe disease. Kuru, see Creutzfeldt-Jakob disease. Lissencephaly. Lymphocytic lymphomas ...
http://en.wikipedia.org/wiki/List_of_incurable_diseases
en.wikipedia.org
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summary
Krabbe disease: When to seek medical advice - MayoClinic.com
Krabbe disease â?" Comprehensive overview covers symptoms, causes, treatment of this central ... If your doctor suspects Krabbe disease, he or she will ...
http://www.mayoclinic.com/health/krabbe-disease/DS00937/DSEC...
www.mayoclinic.com
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summary
Health Information
A member of SSM Health Care. Body, Mind, Spirit... We care for the whole person. ... Krabbe disease. KTS. Kufs' disease. Kuru. Kwashiorkor. Kyphoscoliosis. Kyphosis ...
http://ssmhealth.adam.com/content.aspx?pid=1&gid=200000&sub=Disease&alpha=K
ssmhealth.adam.com
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summary
Krabbe disease - Educational resources - Information pages - Genetics ...
... information in the Genetics Home Reference condition summary on Krabbe disease. ... Ask the Geneticist: Treatment of Krabbe disease ...
http://ghr.nlm.nih.gov/condition=krabbedisease/show/Educational+resources
ghr.nlm.nih.gov
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summary
Deafness and Related Topics
Tay-Sachs disease ... for the symptoms and appearance of the disease. Krabbe disease. Krabbe disease is an inherited disorder characterized by a deficiency ...
http://adam.about.com/od/deafnessandrelatedtopics/
adam.about.com
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summary
MedlinePlus Medical Encyclopedia: Opisthotonos
Gaucher disease. Glutaric aciduria and organic acidemias. Krabbe Disease. Meningitis. Seizures. Severe head injury. Stiff-person syndrome ...
http://www.nlm.nih.gov/medlineplus/ency/article/003195.htm
www.nlm.nih.gov
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summary
List of eponymous diseases - Wikipedia, the free encyclopedia
Albright-Butler-Bloomberg disease ? Fuller Albright, Allan Macy Butler, Esther Bloomberg ... Christensen-Krabbe disease ? Erna Christensen, Knud Krabbe ...
http://en.wikipedia.org/wiki/List_of_eponymous_diseases
en.wikipedia.org
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summary
Introduction: Demyelinating Disorders: Merck Manual Professional
Krabbe's disease and other leukodystrophies* Adrenoleukodystrophies* Adrenomyeloneuropathy ... callosum (Marchiafava-Bignami disease) Vitamin B12 deficiency ...
http://www.merck.com/mmpe/sec16/ch222/ch222a.html
www.merck.com
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summary
Metabolic Disorders - Genetics Home Reference
Krabbe disease. Leber hereditary optic neuropathy. Lesch-Nyhan syndrome. Li-Fraumeni syndrome ... mitochondrial neurogastrointestinal encephalopathy disease ...
http://ghr.nlm.nih.gov/conditionGroup=metabolicdisorders
ghr.nlm.nih.gov
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summary
245200
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245200
www.ncbi.nlm.nih.gov
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summary
Cerebral Atrophy Information Page: National Institute of Neurological ...
Cerebral atrophy information page compiled by the National ... leukodystrophies, such as Krabbe disease, which destroy the myelin sheath that protects axons ...
http://www.ninds.nih.gov/disorders/cerebral_atrophy/cerebral...
www.ninds.nih.gov
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summary
Diseases and Conditions - MayoClinic.com
Free, comprehensive guides on hundreds of diseases and conditions from Mayo Clinic experts. ... Globoid cell leukodystrophy (See: Krabbe disease) Glomerulonephritis ...
http://www.mayoclinic.com/health/DiseasesIndex/DiseasesIndex...
www.mayoclinic.com
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summary
PubMed
Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and ... of late-onset variants of Krabbe disease (globoid cell leukodystrophy) has ...
http://www.ncbi.nlm.nih.gov/pubmed/1817026
www.ncbi.nlm.nih.gov
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summary
Cord Blood Banking: Deciding About Public or Private Donations
Should your infant's cord blood be discarded? Should you consider donating your ... Krabbe's disease. Thalassemia. Other rare diseases ...
http://www.webmd.com/a-to-z-guides/cord-blood-banking-decidi...
www.webmd.com
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summary
Loyola University Health System
myLoyola provides you a customized interaction with Loyola University Health ... Krabbe disease. KTS. KUB. Kufs' disease. Kuru. Kwashiorkor. Kyphoscoliosis ...
http://loyolauniversity.adam.com/content.aspx?productId=101&gid=200000&alpha=K
loyolauniversity.adam.com
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summary
Neurodegenerative disease - Wikipedia, the free encyclopedia
Amyotrophic lateral sclerosis (Lou Gehrig's Disease) Ataxia telangiectasia ... Kennedy's disease. Krabbe's disease. Lewy body dementia. Neuroborreliosis ...
http://en.wikipedia.org/wiki/Neurodegenerative_disease
en.wikipedia.org
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summary
Disorders Index: National Institute of Neurological Disorders and ...
The National Institute of Neurological Disorders and Stroke (NINDS) is the leading supporter of biomedical ... Krabbe Disease. Kugelberg-Welander Disease. Kuru ...
http://www.ninds.nih.gov/disorders/disorder_index.htm
www.ninds.nih.gov
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summary
Transplantation of umbilical-cord blood in babies with infantile ...
Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. ... BACKGROUND: Infantile Krabbe's disease produces progressive neurologic ...
http://www.ncbi.nlm.nih.gov/pubmed/15901860
www.ncbi.nlm.nih.gov
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summary
Search Results
Patients & Caregivers. Disease Education Web sites. MerckSource. Healthcare ... a word to get there faster: Go Kr Krabbe's disease Lysosomal Storage Disorders: ...
http://www.merck.com/mrksearch/SearchServlet?filtN=professio...
www.merck.com
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summary
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