Niemann-Pick disease

Common Name(s)

Niemann-Pick disease, Sphingomyelin/cholesterol lipidosis

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Niemann-Pick disease" for support, advocacy or research.

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National Niemann-Pick Disease Foundation, Inc.

The National Niemann-Pick Disease Foundation, Inc. (NNPDF) is an international, voluntary, nonprofit organization made up of parents, medical and educational professionals, friends, relatives and others who are interested in fighting Niemann-Pick disease.

http://www.nnpdf.org

Last Updated: 12 Nov 2012

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National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

http://www.ntsad.org

Last Updated: 15 Apr 2014

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Niemann-Pick Disease Group (UK)

The aim of the Niemann-Pick Disease Group (UK) is to make a positive difference to families affected by the disease through the provision of Care, Information and Research. Care takes the form of providing a central office with a 24hour telephone help line and funding a dedicated Clinical Nurse Specialist to give support through advice, counselling, specialist clinics and advocacy. Information is provided through leaflets, newsletters, family newsbulletin, family directories, care manuals, our website and the Annual Family Conference. Research is in collaboration with other organisations and support groups. Our focus is maintained by a Research Co-ordinator and we offer an annual memorial award.

http://www.niemannpick.org.uk

Last Updated: 12 Nov 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Niemann-Pick disease" for support, advocacy or research.

Logo
National Niemann-Pick Disease Foundation, Inc.

The National Niemann-Pick Disease Foundation, Inc. (NNPDF) is an international, voluntary, nonprofit organization made up of parents, medical and educational professionals, friends, relatives and others who are interested in fighting Niemann-Pick disease.

http://www.nnpdf.org

Last Updated: 12 Nov 2012

View Details
National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

http://www.ntsad.org

Last Updated: 15 Apr 2014

View Details
Logo
Niemann-Pick Disease Group (UK)

The aim of the Niemann-Pick Disease Group (UK) is to make a positive difference to families affected by the disease through the provision of Care, Information and Research. Care takes the form of providing a central office with a 24hour telephone help line and funding a dedicated Clinical Nurse Specialist to give support through advice, counselling, specialist clinics and advocacy. Information is provided through leaflets, newsletters, family newsbulletin, family directories, care manuals, our website and the Annual Family Conference. Research is in collaboration with other organisations and support groups. Our focus is maintained by a Research Co-ordinator and we offer an annual memorial award.

http://www.niemannpick.org.uk

Last Updated: 12 Nov 2012

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Niemann-Pick disease" returned 164 free, full-text research articles on human participants. First 3 results:

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.
 

Author(s): Anneliese O Speak, Danielle Te Vruchte, Lianne C Davis, Anthony J Morgan, David A Smith, Nicole M Yanjanin, Louise Simmons, Ralf Hartung, Heiko Runz, Eugen Mengel, Michael Beck, Jackie Imrie, Elizabeth Jacklin, James E Wraith, Christian Hendriksz, Robin Lachmann, Celine Cognet, Rohini Sidhu, Hideji Fujiwara, Daniel S Ory, Antony Galione, Forbes D Porter, Eric Vivier, Frances M Platt

Journal: Blood. 2014 Jan;123(1):51-60.

 

Niemann-Pick type C (NPC) is a neurodegenerative lysosomal storage disorder caused by defects in the lysosomal proteins NPC1 or NPC2. NPC cells are characterized by reduced lysosomal calcium levels and impaired sphingosine transport from lysosomes. Natural killer (NK) cells kill virally ...

Last Updated: 3 Jan 2014

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[Allogeneic hematopoietic stem cell transplantation for the treatment of Niemann-Pick disease type A: a case report].
 

Author(s): Jing Pan, Zhe Geng, Hua Jiang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2013 Sep;15(9):782-4.

 

Last Updated: 16 Sep 2013

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Inner macular hyperreflectivity demonstrated by optical coherence tomography in niemann-pick disease.
 

Author(s): Danielle S Rudich, Christine A Curcio, Melissa Wasserstein, Scott E Brodie

Journal: JAMA Ophthalmol. 2013 Sep;131(9):1244-6.

 

Last Updated: 13 Sep 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Niemann-Pick disease" returned 15 free, full-text review articles on human participants. First 3 results:

[Adult psychiatric aspects of Niemann-Pick disease].
 

Author(s): Gábor Faludi, Xénia Gonda, Péter Döme

Journal: Neuropsychopharmacol Hung. 2013 Jun;15(2):95-103.

 

Niemann-Pick disease (NPD) is a group of distinct rare disorders (i.e. NPD-A; NPD-B; NPD-C) - with autosomal recessive inheritance pattern - within the class of the inborn disorders of the sphingolipid metabolism (called sphingolipidoses). Since patients with NPD-A do not survive ...

Last Updated: 2 Jul 2013

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Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat.
 

Author(s): Mark Walterfang, Yin-Hsiu Chien, Jackie Imrie, Derren Rushton, Danielle Schubiger, Marc C Patterson

Journal:

 

Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000. Mutations in the NPC1 gene (in 95% of cases) and the NPC2 gene (in approximately 4% of ...

Last Updated: 24 Jan 2013

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Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures.
 

Author(s): Ning Miao, Xiaowei Lu, Naomi P O'Grady, Nicole Yanjanin, Forbes D Porter, Zenaide M N Quezado

Journal: J. Child Neurol.. 2012 Dec;27(12):1541-6.

 

Niemann-Pick disease type C, an autosomal recessive lysosomal storage disorder, can present with severe visceral and neurologic involvement and is associated with a significant decrease in life expectancy. As little is known about anesthetic considerations of this disease, we examined ...

Last Updated: 27 Nov 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for Niemann Pick Type C Disease
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease; Niemann-Pick Disease, Type C

 

Last Updated: 7 Nov 2013

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Longitudinal Study of Cognition With Niemann-Pick Disease, Type C
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease, Type C

 

Last Updated: 5 Feb 2014

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Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease, Type C1

 

Last Updated: 2 Apr 2014

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