Results 61 -
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128
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Complex V deficiency
- ... have been found to cause familial lipoprotein lipase deficiency. This condition disrupts the normal breakdown of triglycerides ... or G188E). Mutations that cause familial lipoprotein lipase deficiency reduce or eliminate lipoprotein lipase activity, which prevents ...
- ... PIGA gene can cause a disorder called PIGA deficiency, which refers to a spectrum of conditions with ... Variants in the PIGA gene that cause PIGA deficiency reduce the function of the PIG-A protein ...
- ... gene has been found to cause GM3 synthase deficiency, a condition characterized by recurrent seizures (epilepsy) and ... to the signs and symptoms of GM3 synthase deficiency. Researchers are working to determine whether it is ...
- Frequently Asked Questions (Carcinoid Cancer Foundation)Carcinoid Tumors/Specifics ... Carcinoid Tumors ... Carcinoid Cancer Foundation
- ... mutations have been identified in people with UNC80 deficiency, a disorder that causes severe nervous system and ... these changes cause the specific features of UNC80 deficiency. More About This Health Condition C2orf21 FLJ33496 KIAA1843 ...
- ... MedlinePlus Genetics provides information about Cytochrome c oxidase deficiency More About This Health Condition More than 80 ... associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum Mutat. 2001 May;17(5):374-81. ...
- ... methylenetetrahydrofolate reductase to process folate. While a shortage (deficiency) of this vitamin is an established risk factor ... are many factors that can contribute to folate deficiency.MTHFR gene polymorphisms are common worldwide, with an ...
- ... called split-hand/foot malformation with long bone deficiency or SHFLD3, is a chromosomal change in which ... with split-hand/foot malformation and long-bone deficiency (SHFLD). Eur J Hum Genet. 2011 Nov;19( ...
- Eosinophilic Disorders Glossary (American Partnership for Eosinophilic Disorders)To find a specific term or abbreviation, click the starting letter of the term or abbreviation. A - C | D - F | G - I | J - L | M - O | P - R | S - U | V - Z A - C Acid Reflux A condition ...
- Definitions of Digestive Terms (International Foundation for Gastrointestinal Disorders)Stomach Disorders/Reference Desk ... Stomach Disorders ... Digestive Diseases/Reference Desk ... Digestive Diseases ... International Foundation for Gastrointestinal Disorders