Mitochondrial diseases

Results: 104



#Item
61DNA / Neurological disorders / Syndromes / Pain / Rare diseases / Complex regional pain syndrome / Mitochondrial DNA / Mitochondrion / Cyclic vomiting syndrome / Health / Biology / Medicine

Final Progress Report: RSDSA and RSDhope Grant Researcher’s Name: E-mail Address: Institution: Project Title: Date:

Add to Reading List

Source URL: www.rsds.org

Language: English - Date: 2013-01-10 15:04:32
62Fatty-acid metabolism disorder / Mitochondrial trifunctional protein deficiency / Newborn screening / Fatty acid metabolism / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Malonyl-CoA decarboxylase deficiency / Health / Medicine / Rare diseases

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)

Add to Reading List

Source URL: www.health.mo.gov

Language: English - Date: 2009-02-03 16:52:41
63Ophthalmology / Rare diseases / Syndromes / Kearns–Sayre syndrome / Chronic progressive external ophthalmoplegia / Retinitis pigmentosa / Ophthalmoparesis / Mitochondrion / Ptosis / Health / Mitochondrial diseases / Genetics

Microsoft Word - KEARNSFORMATTED.doc

Add to Reading List

Source URL: www.umdf.org

Language: English - Date: 2007-08-28 00:23:21
64Catechol-O-methyl transferase / Health / Mutation / Medicine / Deafness / Mitochondrial diseases / Ernest Beutler / Nonsyndromic deafness / Bruce Beutler / Rockefeller University / Biology

September. 22, 2008 NEWS IS PROVIDED FOR YOUR USE AND INFORMATION WITHOUT ENDORSEMENT OR OPINION Article courtesy of Tosh Ushino, UCLA: By Renee Twombly

Add to Reading List

Source URL: humansubjects.energy.gov

Language: English - Date: 2012-08-29 10:11:01
65Deafness / Cytogenetics / Syndromes / Mitochondrial diseases / X-linked recessive inheritance / Sex linkage / Nonsyndromic deafness / Usher syndrome / Sensorineural hearing loss / Biology / Genetics / Philosophy of biology

Understanding the Genetics of Deafness A Guide for Patients and Families Harvard Medical School

Add to Reading List

Source URL: www.infanthearing.org

Language: English - Date: 2008-11-04 13:13:32
66Fatty-acid metabolism disorder / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Carnitine-acylcarnitine translocase deficiency / Short-chain acyl-coenzyme A dehydrogenase deficiency / Fatty acid metabolism / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Mitochondrial trifunctional protein deficiency / Newborn screening / Lipid / Health / Medicine / Rare diseases

Microsoft Word - FAOD.doc

Add to Reading List

Source URL: health.tn.gov

Language: English - Date: 2007-05-01 14:47:24
67Rare diseases / Fatty acids / Metabolism / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Fatty-acid metabolism disorder / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Newborn screening / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Mitochondrial trifunctional protein deficiency / Health / Medicine / Biology

Fatty Acid Disorders Information for Parents  Overview Fatty acid disorders (also called fatty acid oxidation disorders) are a group of rare, inherited conditions that affect infants from birth. They are caused by enz

Add to Reading List

Source URL: www.kdheks.gov

Language: English - Date: 2013-09-05 15:51:36
68Biology / Medicine / National Institutes of Health / RDCRN Contact Registry / Mitochondrion / Chronic progressive external ophthalmoplegia / MELAS syndrome / Mitochondrial neurogastrointestinal encephalopathy syndrome / University of South Florida / Health / Mitochondrial diseases / Rare diseases

Consent Form for the RDCRN Contact Registry Please read and make sure you understand the information below before signing this form. In this form the term “you” refers to you or your child. What is the RDCRN Contact

Add to Reading List

Source URL: www.rarediseasesnetwork.org

Language: English - Date: 2014-02-26 12:04:06
69Genetic genealogy / Mitochondrial diseases / Human evolution / Phylogenetics / Mitochondrial DNA / Haplogroup / MT-RNR1 / Ancient DNA / MELAS syndrome / Genetics / Biology / DNA

c Indian Academy of Sciences  RESEARCH NOTE Compound mitochondrial DNA mutations in a neurological patient with

Add to Reading List

Source URL: www.ias.ac.in

Language: English - Date: 2014-05-01 12:00:28
70Rare diseases / Applied sciences / Food science / Health sciences / Fatty-acid metabolism disorder / Health / Mitochondrial trifunctional protein deficiency / Medicine

Parent Fact Sheet DISORDER Trifunctional Protein Deficiency (TFP) CAUSE People with trifunctional protein (TFP) deficiency have problems breaking down fat into energy for their body.

Add to Reading List

Source URL: www.chfs.ky.gov

Language: English - Date: 2014-09-10 21:14:49
UPDATE