WordNet

write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
(biology) the taxonomic group whose characteristics are used to define the next higher taxon
a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
all of the tokens of the same symbol; "the word `element contains five different types of character"
printed characters; "small type is hard to read"
identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
the 22nd letter of the Roman alphabet (同)v
any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues
writing done with a typewriter (同)typewriting

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〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
vanadium の化学記号

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/12/07 17:13:12」(JST)

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Maroteaux–Lamy syndrome (also known as mucopolysaccharidosis type VI,^[1] MPS VI, or polydystrophic dwarfism) is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B (ARSB).^[2] It is named after Pierre Maroteaux (1926-) and his mentor Maurice Emil Joseph Lamy (1895-1975), both French physicians.^[3]^[4]

History and symptoms

Children with Maroteaux–Lamy syndrome usually have normal intellectual development but share many of the physical symptoms found in Hurler syndrome. Caused by the deficient enzyme N-acetylgalactosamine 4-sulfatase, Maroteaux–Lamy syndrome has a variable spectrum of severe symptoms. Neurological complications include clouded corneas, deafness, thickening of the dura (the membrane that surrounds and protects the brain and spinal cord), and pain caused by compressed or traumatized nerves and nerve roots.

Signs are revealed early in the affected child's life, with one of the first symptoms often being a significantly prolonged age of learning how to walk.^[5] By age 10 children have developed a shortened trunk, crouched stance, and restricted joint movement. In more severe cases, children also develop a protruding abdomen and forward-curving spine. Skeletal changes (particularly in the pelvic region) are progressive and limit movement. Many children also have umbilical hernia or inguinal hernias. Nearly all children have some form of heart disease, usually involving valve dysfunction. An enzyme replacement therapy, galsulfase (Naglazyme), was tested on patients with Maroteaux–Lamy syndrome and was successful in that it improved growth and joint movement. An experiment was then carried out to see whether an injection of the missing enzyme into the hips would help the range of motion and pain. At a cost of $365,000 a year, Naglazyme is one of the world's most expensive drugs.^[6]

References

^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
^ Garrido E, Cormand B, Hopwood JJ, Chabás A, Grinberg D, Vilageliu L (July 2008). "Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene". Mol. Genet. Metab. 94 (3): 305–12. doi:10.1016/j.ymgme.2008.02.012. PMID 18406185.
^ synd/1619 at Who Named It?
^ MAROTEAUX P, LEVEQUE B, MARIE J, LAMY M (September 1963). "[A NEW DYSOSTOSIS WITH URINARY ELIMINATION OF CHONDROITIN SULFATE B.]". Presse Med (in French). 71: 1849–52. PMID 14091597.
^ "Topic Galleries". Chicago Tribune.
^ Larry Schwartz. "The 9 Most Expensive Medicines in the World–Courtesy of Big Pharma". AlterNet.

External links

Maroteaux-lamy.com

UpToDate Contents

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1. ムコ多糖症：臨床的特徴および診断 mucopolysaccharidoses clinical features and diagnosis
2. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
3. ムコ多糖症：合併症およびマネージメント mucopolysaccharidoses complications and management
4. 外反膝の小児に対するアプローチ approach to the child with knock knees
5. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder

English Journal

Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI.

Lin HY1, Chuang CK2, Chen MR3, Lin SM3, Hung CL4, Chang CY5, Chiu PC6, Tsai WH7, Niu DM8, Tsai FJ9, Lin SJ7, Hwu WL10, Lin JL11, Lin SP12.
Molecular genetics and metabolism.Mol Genet Metab.2016 Apr;117(4):431-7. doi: 10.1016/j.ymgme.2016.02.003. Epub 2016 Feb 16.
BACKGROUND: While enzyme replacement therapy (ERT) has been shown to improve endurance and joint mobility for patients with mucopolysaccharidoses (MPS) I, II, IVA and VI, the impact of ERT on cardiac abnormalities remains uncertain.METHODS: Medical records and echocardiograms of 28 Taiwanese MPS pat
PMID 26899310

Elevated TNF-α is associated with pain and physical disability in mucopolysaccharidosis types I, II, and VI.

Polgreen LE1, Vehe RK2, Rudser K3, Kunin-Batson A4, Utz JJ5, Dickson P6, Shapiro E5, Whitley CB5.
Molecular genetics and metabolism.Mol Genet Metab.2016 Apr;117(4):427-30. doi: 10.1016/j.ymgme.2016.01.012. Epub 2016 Jan 28.
BACKGROUND: Children and adults with the lysosomal storage diseases mucopolysaccharidosis (MPS) types I, II and VI live shortened lives permeated by chronic pain and physical disability. Current treatments do not alleviate these problems. Thus there is a critical need to understand the mechanism of
PMID 26873528

Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.

Verma J1, Thomas DC2, Kasper DC3, Sharma S2, Puri RD2, Bijarnia-Mahay S2, Mistry PK4, Verma IC2.
JIMD reports.JIMD Rep.2016 Mar 24. [Epub ahead of print]
High consanguinity rates, poor access to accurate diagnostic tests, and costly therapies are the main causes of increased burden of lysosomal storage disorders (LSDs) in developing countries. Therefore, there is a major unmet need for accurate and economical diagnostic tests to facilitate diagnosis
PMID 27008195

Japanese Journal

Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type Ⅵ

Saito Seiji,Ohno Kazuki,Sekijima Masakazu [他],SUZUKI Toshihiro,SAKURABA Hitoshi
Journal of human genetics 57(4), 280-282, 2012-04-01
NAID 10030662932

Anesthesia in a patient with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)

SUH Soon Hak,OKUTANI Ryu,NAKASUJI Masato,NAKATA Kazuo
Journal of anesthesia 24(6), 945-948, 2010-12-20
NAID 10027741725

Cell-surface arylsulfatase A and B on sinusoidal endothelial cells, hepatocytes, and Kupffer cells in mammalian livers

MITSUNAGA NAKATSUBO Keiko,KUSUNOKI Shinichiro,KAWAKAMI Hayato,AKASAKA Koji,AKIMOTO Yoshihiro
Medical molecular morphology : official journal of the Japanese Society for Clinical Molecular Morphology 42(2), 63-69, 2009-06-01
NAID 10025859800

「ムコ多糖症VI型」

Maroteaux–Lamy syndrome
Classification and external resources
Specialty	endocrinology
ICD-10	E76.2
ICD-9-CM	277.5
OMIM	253200
DiseasesDB	ddb29179
eMedicine	ped/1373
MeSH	D009087
	[edit on Wikidata]

　　[★]

英: mucopolysaccharidosis VI, mucopolysaccharidosis type VI, MPS VI
同: マロトー・ラミー症候群マロトー-ラミー症候群 Maroteaux-Lamy syndrome

「vi」

　　[★]

初速度 initial velocity

linux

検索

:/<文字列>　：　文字列 を検索する（順方向） 
:?<文字列>　：　文字列を検索する（逆方向） 
:n　　　　　：　順方向へ検索する  
:N　　　　　：　逆方向へ検索する

終了

:q　　　　　：　(何も変更していない場合)保存せずに終了
:q!　　　　　：　(何か変更した場合)保存せずに終了

「type」

　　[★]

n.

型、タイプ、(生物)タイプ標本

(windows)ファイル内容表示(linux -> cat])

ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html

関: form、mode、pattern、type specimen、typed

「V」

　　[★]

「typed」

　　[★]

adj.

型の

関: form、mode、pattern、type

「typing」

　　[★]

n.

タイプで打つこと、タイピング。分類

[Bolognia-1] Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.

[pmid18406185-2] Garrido E, Cormand B, Hopwood JJ, Chabás A, Grinberg D, Vilageliu L (July 2008). "Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene". Mol. Genet. Metab. 94 (3): 305–12. doi:10.1016/j.ymgme.2008.02.012. PMID 18406185.

[3] synd/1619 at Who Named It?

[pmid14091597-4] MAROTEAUX P, LEVEQUE B, MARIE J, LAMY M (September 1963). "[A NEW DYSOSTOSIS WITH URINARY ELIMINATION OF CHONDROITIN SULFATE B.]". Presse Med (in French). 71: 1849–52. PMID 14091597.

[5] "Topic Galleries". Chicago Tribune.

[6] Larry Schwartz. "The 9 Most Expensive Medicines in the World–Courtesy of Big Pharma". AlterNet.

リンク元	「ムコ多糖症VI型」
関連記事	「vi」「type」「V」「typed」「typing」

匿名

検索

案内

案内

mucopolysaccharidosis type VI