dehydrodolichol

Networked: 7 relevant articles (0 outcomes, 0 trials/studies)

1.	Lam, Byron L: 3 articles (01/2014 - 12/2013)
2.	Wen, Rong: 3 articles (01/2014 - 12/2013)
3.	Peričak-Vance, Margaret A: 2 articles (01/2014 - 01/2014)
4.	Vance, Jeffery M: 2 articles (01/2014 - 01/2014)
5.	Züchner, Stephan L: 2 articles (01/2014 - 01/2014)
6.	Kim, Ilsoo: 1 article (01/2021)
7.	Kim, Jinhee: 1 article (01/2021)
8.	Koh, Seong-Beom: 1 article (01/2021)
9.	Chantret, I: 1 article (01/2016)
10.	Dorison, N: 1 article (01/2016)

1.	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/01/2014 - "A mutation in the dehydrodolichol diphosphate synthase (DHDDS) was recently identified as the cause of a subtype of recessive retinitis pigmentosa (RP). " 01/01/2014 - "Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa." 12/01/2013 - "We observed a characteristic shortening of plasma and urinary dolichols in retinitis pigmentosa (RP) patients carrying K42E and T206A mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene, using liquid chromatography-mass spectrometry. "
2.	Congenital Disorders of Glycosylation 03/14/1997 - "A partial deficiency of dehydrodolichol reduction is a cause of carbohydrate-deficient glycoprotein syndrome type I." 01/01/2016 - "A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity."
3.	Myoclonus (Nocturnal Myoclonus) 01/01/2021 - "A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia."
4.	Brain Diseases (Brain Disorder) 01/01/2023 - "Background: Heterozygous mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene are one of the causes generating developmental and epileptic encephalopathies. "
5.	Ataxia (Dyssynergia) 01/01/2021 - "A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia."

1.	Diphosphates (Pyrophosphates)
2.	Dolichols