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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/05/22 09:43:05」(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. ムコ多糖症：合併症およびマネージメント mucopolysaccharidoses complications and management
3. ベックウィズ・ヴィーデマン症候群 beckwith wiedemann syndrome

English Journal

Lacritin and other autophagy associated proteins in ocular surface health.

Karnati R1, Talla V2, Peterson K3, Laurie GW4.
Experimental eye research.Exp Eye Res.2016 Mar;144:4-13. doi: 10.1016/j.exer.2015.08.015. Epub 2015 Aug 25.
Advantage may be taken of macroautophagy ('autophagy') to promote ocular health. Autophagy continually captures aged or damaged cellular material for lysosomal degradation and recyling. When autophagic flux is chronically elevated, or alternatively deficient, health suffers. Chronic elevation of flu
PMID 26318608

Emerging drugs for the treatment of mucopolysaccharidoses.

Giugliani R1,2,3,4, Federhen A1,3, Vairo F1, Vanzella C1,5, Pasqualim G1,2, da Silva LM1, Giugliani L1, de Boer AP1, de Souza CF1, Matte U2,4,6, Baldo G4,6,7.
Expert opinion on emerging drugs.Expert Opin Emerg Drugs.2016 Jan 9:1-18. [Epub ahead of print]
INTRODUCTION: Despite being reported for the first time almost one century ago, only in the last few decades effective have treatments become available for the mucopolysaccharidoses (MPSs), a group of 11 inherited metabolic diseases that affect lysosomal function. These diseases are progressive, usu
PMID 26751109

Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI.

Heywood WE1, Camuzeaux S1, Doykov I1, Patel N1, Preece RL1, Footitt E2, Cleary M2, Clayton P1, Grunewald S2, Abulhoul L2, Chakrapani A2, Sebire NJ2, Hindmarsh P1, de Koning TJ3, Heales S2,4, Burke D4, Gissen P1,2, Mills K1.
Analytical chemistry.Anal Chem.2015 Dec 15;87(24):12238-44. doi: 10.1021/acs.analchem.5b03232. Epub 2015 Nov 20.
The mucopolysaccharidoses (MPS) are lysosomal storage disorders that result from defects in the catabolism of glycosaminoglycans. Impaired muscle, bone, and connective tissue are typical clinical features of MPS due to disruption of the extracellular matrix. Markers of MPS disease pathology are need
PMID 26537538

Japanese Journal

Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI

The Tohoku Journal of Experimental Medicine 235(4), 267-273, 2015
NAID 130004822450

財務モデルの視覚的対話型操作インターフェースと，その意思決定の品質への作用

研究報告数理モデル化と問題解決（MPS
NAID 110007993928

pH-Induced Conformational Transition of H. pylori Acyl Carrier Protein: Insight into the Unfolding of Local Structure

The Journal of Biochemistry 135(3), 337-346, 2004
NAID 130003534670

「マロトー・ラミー症候群」

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: Maroteaux-Lamy syndrome
同: ムコ多糖症VI mucopolysaccharidosis VI MPS VI, ムコ多糖症VI型

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マロトー・ラミー症候群 : 71 件
マロト・ラミー症候群 : 19 件

「ムコ多糖症VI型」

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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

「ムコ多糖症VI」

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英: mucopolysaccharidosis VI, MPS VI
関: マロトー・ラミー症候群

「vi」

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　　[★] ムコ多糖症 mucopolysaccharidoses

[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	「マロトー・ラミー症候群」「ムコ多糖症VI型」「ムコ多糖症VI」
関連記事	「vi」「MP」「MPS」「V」「MPSs」

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MPS VI