Summary Cholesteryl ester storage disease (CESD) is a type of lysosomal acid lipase (LAL) deficiency; a rare genetic disorder characterized by a deficiency of the...
ASAH1-related disorders are an extremely rare group of disorders caused by an alteration (mutation) in the ASAH1 gene. Alterations in this gene result in a deficiency of...
Summary Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of...
Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body's cells as a result of...
Summary Niemann-Pick disease type C (NPC) is a rare progressive genetic disorder characterized by an inability of the body to transport cholesterol and other fatty...
Osteonecrosis, also known as avascular necrosis (AVN), aseptic necrosis or ischemic bone necrosis, is a disease resulting in the death of bone cells. If the process...
Summary Classic infantile CLN1 disease is a rare genetic disorder with an onset of symptoms between 6 and 24 months of age. CLN1 disease is characterized by delays in...
Schindler disease is a rare inherited metabolic disorder characterized by the deficient activity of the lysosomal enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA or...
Summary Wolman disease is a type of lysosomal acid lipase (LAL) deficiency; a rare genetic disorder characterized by complete absence of an enzyme known as lysosomal...
Summary Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is...
Gaucher disease type 1 (GD1) is the most common form of Gaucher disease. Like other types of Gaucher disease, GD1 is caused when not enough glucocerebrosidase (GBA)...
Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs,...
Gaucher disease refers to a group of inherited metabolic diseases in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the...
Even though Gaucher disease is one of the better known rare diseases and diagnostic testing is available, some patients still go for 10 years or longer without getting an...
On May 19, on one of the rare disease community’s biggest nights, we will honor the patients, leaders and innovators who are moving the community forward at...
Today, the National Organization for Rare Disorders (NORD), Biotechnology Industry Organization (BIO), and Ernst & Young released “Impact of the Orphan...
Seven new videos have been added to the NORD Rare Disease Video Library, a unique educational resource launched earlier this summer. The library features videos on rare...
Welcome to Season Four of NORDpod, the voice of rare disease. Kicking off 2022, and in recognition of Rare Disease Day, we are proud to welcome actor and social media...
The National Gaucher Foundation (NGF) is a non-profit organization that supports medical research into causes of Gaucher disease. Gaucher disease is a rare metabolic...
The Gauchers Association is a non-profit support group dedicated to providing information and support to families in the United Kingdom, Ireland, and elsewhere whose...
The Children's Gaucher Research Fund (CGRF) is a 501(c)(3) non-profit organization that raises money for medical research aimed at finding a cure for Gaucher disease type...
Gaucher Community Alliances’s (GCA) mission is to help all those affected live their fullest life and alleviate some of the burden associated with this rare disorder...
Gaucher disease is a little known rare genetic disease. When the diagnosis is early and the treatment begins in time, the quality of life of these patients is radically...
PROGRAMME OF THE EVENT On February 26, 2021, together with the movement of the orphan community "Orphan Bell" we will hold a meeting "The Day of Orphan Diseases" in the...
The challenges facing patients with inherited metabolic diseases (IMDs) in Greece are many and formidable and are highlighted due to the impact of Covid-19. More than 20%...
Kurdistan rare disease center in cooperation with Sanofi Genzyme recognized international rare disease day by conducting a lecture about Gaucher disease awareness for our...
Welcome to the NORD Physician Guide to Gaucher Disease. The NORD Online Physician Guides are written for physicians by physicians with expertise on specific rare...
