|1.||Kleta, Robert: 2 articles (06/2010 - 07/2002)|
|2.||Skovby, Flemming: 2 articles (06/2010 - 07/2002)|
|3.||Anikster, Yair: 2 articles (06/2010 - 07/2002)|
|4.||Gahl, William A: 2 articles (06/2010 - 07/2002)|
|5.||Ben-Zeev, B: 1 article (04/2015)|
|6.||Yahalom, G: 1 article (04/2015)|
|7.||Anikster, Y: 1 article (04/2015)|
|8.||Blumkin, L: 1 article (04/2015)|
|9.||Lerman-Sagie, T: 1 article (04/2015)|
|10.||Lev, D: 1 article (04/2015)|
07/01/2002 - "Type III 3-methylglutaconic aciduria (MGA) (MIM 258501) consists of early bilateral optic atrophy, later development of spasticity, extrapyramidal dysfunction and occasionally cognitive deficits, and urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. "
04/01/2015 - "Costeff syndrome is a rare genetic neuro-ophthalmological syndrome consisting of early-onset bilateral optic atrophy along with a progressive complex motor disorder with elevated levels of urinary 3-methylglutaconic acid and 3-methylglutaric acid. "
06/01/2010 - "3-Methylglutaconic aciduria type III (3-MGCA type III), caused by recessive mutations in the 2-exon gene OPA3, is characterized by early-onset bilateral optic atrophy, later-onset extrapyramidal dysfunction, and increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. "
04/01/2006 - "A diagnosis of 3-methylglutaconic aciduria type I (OMIM: 250950) based on elevated urinary excretion of 3-methylglutaconic acid (3MGA), 3-methylglutaric acid (3MG) and 3-hydroxyisovaleric acid (3HIVA) was made in a 61-year-old female patient presenting with leukoencephalopathy slowly progressing over more than 30 years. "
|4.||Muscle Hypotonia (Hypotonia)
08/01/1993 - "In a 4.5-month-old boy presenting with marked muscular hypotonia in the neonatal period, hepatomegaly, cardiac hypertrophy, recurrent hypoglycemia, metabolic acidosis, and secondary carnitine deficiency, there was a considerable urinary excretion of 3-methylglutaconic and 3-methylglutaric acid. "
|5.||Metabolic Diseases (Metabolic Disease)
|2.||Costeff optic atrophy syndrome
|3.||beta-hydroxyisovaleric acid (beta-hydroxy-beta-methylbutyrate)
|4.||Biological Markers (Surrogate Marker)