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6 records – page 1 of 1.

http://www.angelman.org/

Angelman Syndrome Foundation, Inc. Westmont, IL: Angelman Syndrome Foundation, Inc. (Online)
Audience
Patient or Public
Agency
BC Children's and Women's
Information for families and professionals who want to know more about Angelman Syndrome. Some information is also available in Spanish and Hebrew.
Title
Angelman Syndrome
Corporate Author
Angelman Syndrome Foundation, Inc.
Place
Westmont, IL
Publisher
Angelman Syndrome Foundation, Inc.
Topics
Angelman Syndrome
Genetic Disorders
Abstract
Information for families and professionals who want to know more about Angelman Syndrome. Some information is also available in Spanish and Hebrew.
Material Type
Online
Agency
BC Children's and Women's
URL
http://www.angelman.org/
Audience
Patient or Public

Canadian directory of genetic support groups

https://libraries.phsa.ca/permalink/catalog104273

https://www.lhsc.on.ca/canadian-directory-of-genetic-support-groups/introduction-to-the-directory

Canadian Association of Genetic Counsellors. London, ON: London Health Sciences Centre (Online)
Audience
Patient or Public
Agency
BC Children's and Women's
The directory is designed as a resource guide for families and professionals seeking information on genetic support groups in Canada and the US with special focus on rare genetic disorders.
Title
Canadian directory of genetic support groups
Corporate Author
Canadian Association of Genetic Counsellors
Place
London, ON
Publisher
London Health Sciences Centre
Topics
Genetics/Genetic Disorders-Directories. Resource Guides
Abstract
The directory is designed as a resource guide for families and professionals seeking information on genetic support groups in Canada and the US with special focus on rare genetic disorders.
Material Type
Online
Agency
BC Children's and Women's
URL
https://www.lhsc.on.ca/canadian-directory-of-genetic-support-groups/introduction-to-the-directory
Audience
Patient or Public

Genetic and Rare Disease Information Center

https://libraries.phsa.ca/permalink/catalog104612

https://rarediseases.info.nih.gov/

National Human Genome Research Institute. Bethesda, MD: National Institutes of Health (Online)
Audience
Patient or Public
Agency
BC Children's and Women's
genetic disorders, including: Breast cancer|Charcot-Marie-Tooth; Colon cancer; Cystic fibrosis; Hemochromatosis; Huntington's disease; Parkinson's disease; Progeria; Sickle cell disease; Tay-Sachs; Thalassemia; Skin Cancer; Prostate Cancer.
Title
Genetic and Rare Disease Information Center
Corporate Author
National Human Genome Research Institute
Place
Bethesda, MD
Publisher
National Institutes of Health
Topics
Genetic Disorders
Genetics/Genetic Disorders-Directories. Resource Guides
Abstract
The Genetic and Rare Diseases Information Center employs experienced information specialists to answer questions from the general public, including patients and their families, health care professionals and biomedical researchers. Site includes comprehensive information sheets on 15 specific genetic disorders, including: Breast cancer
Charcot-Marie-Tooth; Colon cancer; Cystic fibrosis; Hemochromatosis; Huntington's disease; Parkinson's disease; Progeria; Sickle cell disease; Tay-Sachs; Thalassemia; Skin Cancer; Prostate Cancer.
Material Type
Online
Agency
BC Children's and Women's
URL
https://rarediseases.info.nih.gov/
Audience
Patient or Public

Tuberous Sclerosis Canada Sclerose Tubereuse

https://libraries.phsa.ca/permalink/catalog109368

http://www.tscanada.ca/

Barrie, ON: Tuberous Sclerosis Canada , 2006. (Online)
Audience
Patient or Public
Agency
BC Children's and Women's
Tuberous Sclerosis Canada Sclerose Tubereuse (TSCST) provides up-to-date medical, genetic and neurological information on Tuberous Sclerosis Complex. TSCST can help individuals contact other families who have similar symptoms. TSCST has information on medical and rehabilitation clinics specializing…
Title
Tuberous Sclerosis Canada Sclerose Tubereuse
Place
Barrie, ON
Publisher
Tuberous Sclerosis Canada
Year Published
2006
Topics
Tuberous Sclerosis
Genetic Disorders
Brain Disorders-Congenital
Seizure Disorders. Epilepsy
Abstract
Tuberous Sclerosis Canada Sclerose Tubereuse (TSCST) provides up-to-date medical, genetic and neurological information on Tuberous Sclerosis Complex. TSCST can help individuals contact other families who have similar symptoms. TSCST has information on medical and rehabilitation clinics specializing in the treatment of TSC. TSCST supports medical, genetic and rehabilitative research efforts.
Material Type
Online
Agency
BC Children's and Women's
URL
http://www.tscanada.ca/
Audience
Patient or Public

Urea cycle disorders: A guide for patients, parents and families

https://libraries.phsa.ca/permalink/catalog113941

http://www.nucdf.org/documents/UCD_Guide_NewFamilies_USA.pdf

National Urea Cycle Disorders Foundation. Pasadena, CA: National Urea Cycle Disorders Foundation , 2015. (Online, Pamphlet)
Audience
Patient or Public
Agency
BC Children's and Women's
URL Notes
Click on the link above to view/print.
You or your child have/has been diagnosed with a urea cycle disorder. Initially any information regarding these types of condition is hard to understand, especially at a time when you are naturally very worried and suddenly provided with lots of medical information. By describing this condition in …
Title
Urea cycle disorders: A guide for patients, parents and families
Corporate Author
National Urea Cycle Disorders Foundation
Place
Pasadena, CA
Publisher
National Urea Cycle Disorders Foundation
Year Published
2015
Topics
Genetic Disorders
Urinary System
Abstract
You or your child have/has been diagnosed with a urea cycle disorder. Initially any information regarding these types of condition is hard to understand, especially at a time when you are naturally very worried and suddenly provided with lots of medical information. By describing this condition in booklet format, you will be able to read it at your leisure, and then write down any important questions that you may want to ask your specialist doctor, nurse or dietitian.
Language
English
Material Type
Online
Pamphlet
Agency
BC Children's and Women's
URL
http://www.nucdf.org/documents/UCD_Guide_NewFamilies_USA.pdf
URL Notes
Click on the link above to view/print.
Audience
Patient or Public

http://www.nucdf.org/ucd.htm

National Urea Cycle Disorders Foundation. Pasadena, CA: National Urea Cycle Disorders Foundation , 2015. (Online)
Audience
Patient or Public
Agency
BC Children's and Women's
URL Notes
Click on the link above to view/print.
A urea cycle disorder is a genetic disorder caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The National Urea Cycle Disorders Foundation provides information and resources on
Title
What is a urea cycle disorder?
Corporate Author
National Urea Cycle Disorders Foundation
Place
Pasadena, CA
Publisher
National Urea Cycle Disorders Foundation
Year Published
2015
Topics
Genetic Disorders
Urinary System
Abstract
A urea cycle disorder is a genetic disorder caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The National Urea Cycle Disorders Foundation provides information and resources on this disorder.
Language
English
Material Type
Online
Agency
BC Children's and Women's
URL
http://www.nucdf.org/ucd.htm
URL Notes
Click on the link above to view/print.
Audience
Patient or Public

6 records – page 1 of 1.