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Topic: Mucopolysaccharidoses

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	Mucopolysaccharidoses Fact Sheet: National Institute of Neurological Disorders and Stroke (NINDS)
		The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin, and connective tissue.
		Persons with mucolipidosis may share some of the clinical features associated with the mucopolysaccharidoses (certain facial features, bony structure abnormalities, and damage to the brain), and increased amounts of the enzymes needed to break down the lipids are found in the blood.
		The disorder is caused by deficiency of the enzyme beta-glucuronidase.
	www.ninds.nih.gov /disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm (3252 words)

	Mucopolysaccharidoses Treatment and Symptoms
		The mucopolysaccharidoses are inborn errors of metabolism resulting from the deficiency of specific lysosomal enzymes needed in glycosaminoglycan catabolism.
		The mucopolysaccharidoses are a group of inherited metabolic diseases cause...
		Mucopolysaccharidoses consist of a group of inherited metabolic disorders caused by a deficiency of the specific lysosomal enzymes needed to break down mucopolysaccharides.
	goldbamboo.com /topic-t3373.html (195 words)

	Sly Syndrome
		Mucopolysaccharidoses, which are also known as mucopolysaccharide storage (MPS) diseases, are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes.
		The mucopolysaccharidoses are a group of inherited disorders of lysosomal storage characterized by deposits of certain complex carbohydrates (mucopolysaccharides) in many tissues and organs of the body (i.e., eyes, skeleton, arteries, joints, ears, skin, and/or teeth).
		Sialidosis (mucolipidosis I) is a very rare inherited metabolic disorder characterized by a deficiency of the enzyme alpha-neuraminidase and belongs to a group of diseases known as lysosomal storage disorders.
	hw.healthdialog.com /kbase/nord/nord291.htm (2202 words)

	Introduction: Mucopolysaccharidoses - CureResearch.com
		Mucopolysaccharidoses: Group of diseases affecting metabolism of mucopolysaccharides.
		Mucopolysaccharidoses: Mucopolysaccharidoses consist of a group of inherited metabolic disorders caused by a deficiency of the specific lysosomal enzymes needed to break down mucopolysaccharides.
		When mutations occur in the genes for the enzymes involved in the normal turnover of mucopolysaccharides, excess amounts of them are stored in the body, causing progressive damage and, in most cases, eventual death.
	www.cureresearch.com /m/mucopolysaccharidoses/intro.htm (349 words)

	Mucopolysaccharidoses information from Wikipedia - WrongDiagnosis.com
		The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called Glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and connective tissue.
		The mucopolysaccharidoses are classified as lysosomal storage diseases.
		MPS II Hunter syndrome or iduronate sulfatase deficiency, is caused by lack of the enzyme iduronate sulfatase.
	www.wrongdiagnosis.com /m/mucopolysaccharidoses/wiki.htm (3008 words)

	Mucopolysaccharidoses Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
		The mucopolysaccharidoses are a group of inherited diseases in which a defective or missing enzyme causes large amounts of complex sugar molecules to accumulate in harmful amounts in the body's cells and tissues.
		Currently, scientists are working to identify the genes associated with the mucopolysaccharidoses syndromes and plan to test new therapies in animal models and in humans.
		Research funded by the Institute has shown that viral-delivered gene therapy in animal models of the mucopolysaccharidoses can stop the buildup of storage materials in brain cells and improve learning and memory.
	www.ninds.nih.gov /disorders/mucopolysaccharidoses/mucopolysaccharidoses.htm (677 words)

	Basic Summary for Mucopolysaccharidoses - WrongDiagnosis.com
		Mucopolysaccharidoses is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Mucopolysaccharidoses, or a subtype of Mucopolysaccharidoses, affects less than 200,000 people in the US population.
		Subtypes of Mucopolysaccharidoses: Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis III, Mucopolysaccharidosis IV, Mucopolysaccharidosis V, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII
	www.wrongdiagnosis.com /m/mucopolysaccharidoses/basics.htm (251 words)

	Lysosomal diseases-General principles
		The most common among them are the mucopolysaccharidoses (MPS), which affect one in every 100,000 to 200,000 liveborn infants.
		The mucopolysaccharidoses and glycoproteinoses affect neurons but have also severe skeletal and visceral manifestations which constitute the mucopolysaccharidosis phenotype.
		In general, the cells that are most severely affected by LSDs are neurons, because they process large amounts of gangliosides and once lost they cannot be replaced, and histiocytes, because their main function is lysosomal degradation, and they decompensate if their lysosomal enzymes are deficient.
	www.neuropathologyweb.org /chapter10/chapter10aLSDgeneral.html (1066 words)

	BioMed Central \| Full text \| Atypical microbial infections of digestive tract may contribute to diarrhea in ...
		Mucopolysaccharidoses are heritable, metabolic diseases caused by deficiency in an activity of one of specific lysosomal enzymes involved in degradation of mucoplysaccharides (glycosaminoglycans).
		Among many medical problems of patients with mucopolysaccharidoses, there are frequent episodes of diarrhea of unknown etiology.
		Mucopolysaccharidoses (MPS) are rare genetic diseases, inherited in an autosomal recessive manner (except MPS type II, which is X-linked) [1].
	www.biomedcentral.com /1471-2431/5/9 (2513 words)

	The spot test is not a reliable screening procedure for mucopolysaccharidoses -- de Jong et al. 37 (4): 572 -- Clinical ...
		The spot test is not a reliable screening procedure for mucopolysaccharidoses -- de Jong et al.
		The spot test is not a reliable screening procedure for mucopolysaccharidoses
		mucopolysaccharidoses and should not be used to screen for these diseases.
	www.clinchem.org /cgi/content/abstract/37/4/572 (205 words)

	Mucopolysaccharidoses: Hereditary Connective Tissue Disorders: Merck Manual Home Edition (Site not responding. Last check: 2007-10-10)
		The mucopolysaccharidoses are a group of hereditary disorders affecting the connective tissue that result in a characteristic facial appearance and abnormalities of the bones, eyes, liver, and spleen, sometimes accompanied by mental retardation.
		As a result, excess mucopolysaccharides enter the blood and are deposited in abnormal locations throughout the body.
		Mucopolysaccharidoses can be diagnosed before birth using amniocentesis or chorionic villus sampling (see Detecting Abnormalities Before Birth
	www.merck.com /mmhe/print/sec23/ch279/ch279f.html (222 words)

	Fiberoptic Intubation And Monitoring Of Somatosensory Evoked Potentials In Children With Mucopolysaccharidoses
		Due to the risk of severe permanent neurologic sequelae (tetraplegia) we consider the monitoring of SEP to be an essential contribution to the safety of anesthesia in patient with a type of MPS that is at specific risk (types I, IV, VI, VII, (table 1)(6,
		Walker RWM, Allen DL, Rothera MR: A fibreoptic intubation technique for children with mucopolysaccharidoses using the laryngeal mask airway.
		Kulkarni MV, Williams JC, Yeakley JW: Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses.
	www.ispub.com /journals/IJA/Vol3N1/mpssep.htm (814 words)

	[No title]
		Summary: Mucopolysaccharidoses are characterized by abnormal lysosomal accumulation of mucopolysaccharides or glycosaminoglcan resulted from deficiency of a lysosomal glucosidase or sulfatase.
		Mucopolysaccharide: Common to all types of mucopolysaccharidoses is abnormal lysosomal storage of mucopolysaccharides.
		Although zebra bodies are regarded as a typical finding in mucopolysaccharides, they are also seen in other storage diseases.
	moon.ouhsc.edu /kfung/JTY1/NeuroHelp/ZNF5IE08.htm (297 words)

	Evaluation of Accumulated Mucopolysaccharides in the Brain of Patients with Mucopolysaccharidoses by 1H-Magnetic ... (Site not responding. Last check: 2007-10-10)
		Evaluation of Accumulated Mucopolysaccharides in the Brain of Patients with Mucopolysaccharidoses by 1H-Magnetic Resonance Spectroscopy before and after Bone Marrow Transplantation -- TAKAHASHI et al.
		Quantification of metabolites in brain by MRS in patients with mucopolysaccharidoses
		Lee C, Dineen TE, Brack M, Kirsch JE, Runge VM 1993 The mucopolysaccharidoses: characterization by cranial MR imaging.
	www.pedresearch.org /cgi/content/full/49/3/349 (2883 words)

	MPSI Symptoms - Communicating Hydrocephalus, Mental Retardation, and Carpal Tunnel
		Wraith JE, Alani SM Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders.
		Haddad FS, Jones DH, Vellodi A., Kane N., Pitt MC Carpal tunnel syndrome in the mucopolysaccharidoses and the mucolipidoses.
		Van Heest AE, House J, Krivit W, Walker K. Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders.
	www.aldurazyme.com /hc/mps/az_us_hc_signs_nervous.asp (425 words)

	Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders -- Wraith and Alani 65 (9): 962 -- Archives ...
		Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders -- Wraith and Alani 65 (9): 962 -- Archives of Disease in Childhood
		Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders
		syndrome is a very common complication of the mucopolysaccharidoses and
	adc.bmjjournals.com /cgi/content/abstract/archdischild;65/9/962 (190 words)

	UpToDate Clinical features and diagnosis of the mucopolysaccharidoses
		— The mucopolysaccharidoses (MPS) are lysosomal storage disorders caused by the deficiency of enzymes required for the stepwise breakdown of glycosaminoglycans (GAGs), previously known as mucopolysaccharides [1-5].
		These are rare conditions, with an estimated total incidence of all types of MPS of approximately one in 20,000 live births.
		The clinical features and diagnosis of the mucopolysaccharidoses are reviewed here.
	patients.uptodate.com /topic.asp?file=dis_chld/5208 (460 words)

	Mucopolysaccharidosis - Wikipedia, the free encyclopedia
		Hunter syndrome has two clinical subtypes and (since it shows X-linked recessive inheritance) is the only one of the mucopolysaccharidoses in which the mother alone can pass the defective gene to a son.
		In July 2006, the United States Food and Drug Administration approved a synthetic version of I2S produced by Shire Pharmaceuticals Group, called Elaprase, as a treatment for MPS type II (Hunter syndrome).
		Society for Mucopolysaccharide Diseases in the UK The National MPS Society in the US, combating MPS and ML (mucolipidosis)
	en.wikipedia.org /wiki/Mucopolysaccharidosis (2953 words)

	Virtual Pediatric Hospital: Paediapaedia: Mucopolysaccharidoses (MPS)
		The clinical findings vary according to which of the mucopolysaccharidoses the patient has.
		The radiographic pattern is sensitive for the detection of a mucopolysaccharidoses but not specific to differentiate between them.
		Abnormal mucopolysaccharide accumulates in numerous cell types including peripheral leukocytes, bone marrow cells, and fibroblasts.
	www.virtualpediatrichospital.org /providers/PAP/MSDiseases/MPS.shtml (311 words)

	eMedicine - Mucopolysaccharidoses Types I-VII : Article by Janette Baloghova, MD (Site not responding. Last check: 2007-10-10)
		Gabrielli O, Polonara G, Regnicolo L, et al: Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses.
		Leighton SE, Papsin B, Vellodi A, et al: Disordered breathing during sleep in patients with mucopolysaccharidoses.
		Nelson J, Crowhurst J, Carey B, Greed L: Incidence of the mucopolysaccharidoses in Western Australia.
	www.emedicine.com /derm/topic710.htm (5347 words)

	Lysosomal Storage Disease from Neurology / Pediatric Neurology (Site not responding. Last check: 2007-10-10)
		Lysosomal storage diseases (LSDs) describe a heritable group of heterogenous human disorders characterized by the accumulation of undigested macromolecules intralysosomally, resulting in an increase in the size and number of these organelles.
		LSDs are generally classified by the accumulated substrate and they include sphingolipidoses, glycoproteinoses, mucolipidoses, mucopolysaccharidoses (MPSs), and others.
		The concept of LSD has expanded to include deficiencies in lysosomal enzymes, in the noncatalytic lysosomal proteins, and more general abnormalities in lysosomal function all occurring within the lysosome.
	users3.ev1.net /~drtony/lysozone.htm (6675 words)

	OFA: DNA General Information
		Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders due to defects in the degradation of certain polysaccharides that are found surrounding cells in the tissues.
		For more information, go to the MPS section of the PennGen site.
		MPS VI Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders due to defects in the degradation of certain polysaccharides that are found surrounding cells in the tissues.
	www.offa.org /dnageninfo.html (774 words)

	eMedicine - Mucopolysaccharidoses Types I-VII : Article Excerpt by: Janette Baloghova, MD (Site not responding. Last check: 2007-10-10)
		Background: Mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases, each of which is produced by an inherited deficiency of an enzyme involved in the degradation of acid mucopolysaccharides (now called glycosaminoglycans [GAGs]).
		These diseases are autosomal recessive, except for MPS type II, which is X-linked.
		In some populations, premature stop mutations represent roughly two thirds of the mutations that.....
	www.emedicine.com /derm/byname/mucopolysaccharidoses-types-i-vii.htm (381 words)

	The mucopolysaccharidoses and anaesthesia: a report of clinical experience -- Herrick and Rhine 35 (1): 67 -- Canadian ... (Site not responding. Last check: 2007-10-10)
		The mucopolysaccharidoses and anaesthesia: a report of clinical experience -- Herrick and Rhine 35 (1): 67 -- Canadian Journal of Anesthesia
		The mucopolysaccharidoses and anaesthesia: a report of clinical experience
		anaesthetics to nine patients with several of the mucopolysaccharidoses;
	www.cja-jca.org /cgi/content/abstract/35/1/67 (239 words)

	Mucopolysaccharidoses \| Principal Health News
		You are here: Home > Health A to Z > Mucopolysaccharidoses
		Mucopolysaccharidosis (MPS) is a general term for a number of inherited diseases that are caused by the accumulation of mucopolysaccharides, resulting in problems with an individual's development.
		Wraith, J.E. "The Mucopolysaccharidoses: A Clinical Review and Guide to Management." Archives of Disease in Childhood 72 (1995): 263-267.
	www.principalhealthnews.com /topic/topic100587163 (2930 words)

	MedlinePlus: Metabolic Disorders
		MPS (Mucopolysaccharidoses) and Related Diseases (National MPS Society)
		Mucopolysaccharidoses (National Institute of Neurological Disorders and Stroke)
		Mucopolysaccharidoses (National Institute of Neurological Disorders and Stroke) - Short Summary
	www.nlm.nih.gov /medlineplus/metabolicdisorders.html (906 words)

	Mucopolysaccharidoses / Morquio's Syndrome
		Provides support and education for families of children with Morquio Type A. Helps educate health care professionals about this lysosomal storage disease.
		Support for families with mucopolysaccharidoses and related disorders.
		Support groups, public education, fund-raising for research, parent referral service for networking.
	hw.healthdialog.com /kbase/shc/shc29mps.htm (190 words)

	UpToDate Krabbe disease
		This topic will review the genetics, clinical manifestations, diagnosis and treatment of Krabbe disease.
		(See "Neurologic manifestations of Fabry disease", see "Genetics; clinical manifestations; and diagnosis of Gaucher disease"see "Metachromatic leukodystrophy", see "Clinical features and diagnosis of the mucopolysaccharidoses", see "Complications and management of the mucopolysaccharidoses" and see "Overview of Niemann-Pick disease").
		An overview of hereditary disorders associated with peripheral neuropathy is also discussed separately.
	patients.uptodate.com /topic.asp?file=ped_neur/23177 (523 words)

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