Lysosomal Disorders

Common Name(s)

Lysosomal Disorders

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lysosomal Disorders" for support, advocacy or research.

Hide And Seek Foundation for Lysosomal Disease

We are a foundation dedicated to raising awareness and funds for research to treat, cure and prevent Lysosomal Disease as a whole.

Last Updated: 8 Feb 2010

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Lysosomal Diseases New Zealand

Our mission is to improve contacts, information and support for affected people and their families, to support research into the causes and potential treatments, and improve clinical care for individuals affected with lysosomal diseases.

Last Updated: 7 Jul 2014

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MLD Foundation

We C.A.R.E.™ – The MLD Foundation's global mission is reflected in four areas of purpose that start with people and families ... facilitating Compassion, increasing Awareness, influencing Research, and promoting Education for metachromatic leukodystrophy. We are active in rare disease advocacy, newborn screening, registries, FDA policy, and "educate" regularly on Capitol Hill. The MLD Foundation collaborates with other leukodystrophy and lysosomal disease organizations globally. We are also quite active in global rare disease issues.

Last Updated: 13 Jun 2014

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The International Society for Mannosidosis and Related Diseases

ISMRD is the leading advocate for families worldwide affected by a Glycoprotein & Related Storage Disease. Through partnerships built with medicine, science and industry, we seek to detect and cure these diseases and to enable a network of support and information.

Last Updated: 11 Dec 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lysosomal Disorders" for support, advocacy or research.

Hide And Seek Foundation for Lysosomal Disease

We are a foundation dedicated to raising awareness and funds for research to treat, cure and prevent Lysosomal Disease as a whole.

http://www.hideandseek.org

Last Updated: 8 Feb 2010

View Details
Lysosomal Diseases New Zealand

Our mission is to improve contacts, information and support for affected people and their families, to support research into the causes and potential treatments, and improve clinical care for individuals affected with lysosomal diseases.

http://www.ldnz.org.nz

Last Updated: 7 Jul 2014

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MLD Foundation

We C.A.R.E.™ – The MLD Foundation's global mission is reflected in four areas of purpose that start with people and families ... facilitating Compassion, increasing Awareness, influencing Research, and promoting Education for metachromatic leukodystrophy. We are active in rare disease advocacy, newborn screening, registries, FDA policy, and "educate" regularly on Capitol Hill. The MLD Foundation collaborates with other leukodystrophy and lysosomal disease organizations globally. We are also quite active in global rare disease issues.

http://www.MLDfoundation.org

Last Updated: 13 Jun 2014

View Details
The International Society for Mannosidosis and Related Diseases

ISMRD is the leading advocate for families worldwide affected by a Glycoprotein & Related Storage Disease. Through partnerships built with medicine, science and industry, we seek to detect and cure these diseases and to enable a network of support and information.

http://www.ismrd.org

Last Updated: 11 Dec 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 "Lysosomal Disorders" returned 37 free, full-text research articles on human participants. First 3 results:

Dried blood spot quality control materials for newborn screening to detect lysosomal storage disorders.
 

Author(s): Víctor R De Jesús, Hui Zhou, Robert F Vogt

Journal: Clin. Chem.. 2013 Aug;59(8):1275-6.

 

Last Updated: 29 Jul 2013

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The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders.
 

Author(s): K Wyatt, W Henley, L Anderson, R Anderson, V Nikolaou, K Stein, L Klinger, D Hughes, S Waldek, R Lachmann, A Mehta, A Vellodi, S Logan

Journal: Health Technol Assess. 2012 ;16(39):1-543.

 

To determine natural history and estimate effectiveness and cost of enzyme replacement therapy (ERT) and substrate replacement therapy (SRT) for patients with Gaucher disease, Fabry disease, mucopolysaccharidosis type I (MPS I), mucopolysaccharidosis type II (MPS II), Pompe disease ...

Last Updated: 23 Oct 2012

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Spectrum of Lysosomal storage disorders at a medical genetics center in northern India.
 

Author(s): Prashant K Verma, Prajnya Ranganath, Ashwin B Dalal, Shubha R Phadke

Journal: Indian Pediatr. 2012 Oct;49(10):799-804.

 

There is limited literature available on the phenotypic and mutation spectrum of Indian patients with Lysosomal storage disorders (LSD).

Last Updated: 12 Nov 2012

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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 "Lysosomal Disorders" returned 33 free, full-text review articles on human participants. First 3 results:

Clinical neurogenetics: neuropathic lysosomal storage disorders.
 

Author(s): Gregory M Pastores, Gustavo H B Maegawa

Journal: Neurol Clin. 2013 Nov;31(4):1051-71.

 

The lysosomal storage disorders are a clinically heterogeneous group of inborn errors of metabolism, associated with the accumulation of incompletely degraded macromolecules within several cellular sites. Affected individuals present with a broad range of clinical problems, including ...

Last Updated: 1 Nov 2013

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Animal models for lysosomal storage disorders.
 

Author(s): G M Pastores, P A Torres, B-J Zeng

Journal: Biochemistry Mosc.. 2013 Jul;78(7):721-5.

 

The lysosomal storage disorders (LSD) represent a heterogeneous group of inherited diseases characterized by the accumulation of non-metabolized macromolecules (by-products of cellular turnover) in different tissues and organs. LSDs primarily develop as a consequence of a deficiency ...

Last Updated: 9 Sep 2013

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Newborn screening for lysosomal storage disorders and other neuronopathic conditions.
 

Author(s): Dietrich Matern, Devin Oglesbee, Silvia Tortorelli

Journal: Dev Disabil Res Rev. 2013 Jun;17(3):247-53.

 

Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests ...

Last Updated: 26 Jun 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetic Studies of Lysosomal Storage Disorders
 

Status: Recruiting

Condition Summary: Gaucher's Disease; Lysosomal Storage Disease

 

Last Updated: 10 Sep 2014

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Investigating Lysosomal Storage Diseases in Minority Groups
 

Status: Recruiting

Condition Summary: Lysosomal Storage Disorders; Gaucher Disease; Fabry Disease; Pompe Disease; Niemann-Pick Disease

 

Last Updated: 21 Apr 2014

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Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
 

Status: Recruiting

Condition Summary: Lysosomal Storage Disorders

 

Last Updated: 2 Dec 2013

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