Primary coenzyme Q10 deficiency
CLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually
associated with multisystem involvement, including neurologic manifestations such as fatal …
associated with multisystem involvement, including neurologic manifestations such as fatal …
Clinical presentations of coenzyme q10 deficiency syndrome
Abstract Coenzyme Q 10 (CoQ 10) deficiency is a clinically and genetically heterogeneous
syndrome which has been associated with 5 major clinical phenotypes:(1) …
syndrome which has been associated with 5 major clinical phenotypes:(1) …
Genetics of coenzyme q10 deficiency
M Doimo, MA Desbats, C Cerqua, M Cassina… - Molecular …, 2014 - karger.com
Abstract Coenzyme Q10 (CoQ10) is an essential component of eukaryotic cells and is
involved in crucial biochemical reactions such as the production of ATP in the mitochondrial …
involved in crucial biochemical reactions such as the production of ATP in the mitochondrial …
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review
Coenzyme Q 10 (CoQ 10) deficiency has been associated with 5 major clinical phenotypes:
encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia …
encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia …
Biochemical Diagnosis of Coenzyme Q10 Deficiency
D Yubero, R Montero, R Artuch, JM Land… - Molecular …, 2014 - karger.com
Abstract Coenzyme Q10 (CoQ10) deficiency appears to have a particularly heterogeneous
clinical presentation. However, there appear to be 5 recognisable clinical phenotypes …
clinical presentation. However, there appear to be 5 recognisable clinical phenotypes …
Clinical syndromes associated with Coenzyme Q10 deficiency
M Alcázar-Fabra, E Trevisson… - Essays in …, 2018 - portlandpress.com
Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations
in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level …
in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level …
176th ENMC International Workshop: diagnosis and treatment of coenzyme Q10 deficiency
An ENMC meeting was held in Naarden, the Netherlands (July 9th–11th 2010) with 12
clinical and basic scientists and three industrial representatives from Europe (France …
clinical and basic scientists and three industrial representatives from Europe (France …
Response to early coenzyme Q10 supplementation is not sustained in CoQ10 deficiency caused by CoQ2 mutation
Background COQ2 mutations cause a rare infantile multisystemic disease with
heterogeneous clinical features. Promising results have been reported in response to …
heterogeneous clinical features. Promising results have been reported in response to …
A fatal case of COQ7‐associated primary coenzyme Q10 deficiency
AKY Kwong, ATG Chiu, MHY Tsang, KS Lun… - JIMD …, 2019 - Wiley Online Library
Abstract Background Primary coenzyme Q10 (CoQ10) deficiencies are clinically and
genetically heterogeneous group of disorders associated with defects of genes involved in …
genetically heterogeneous group of disorders associated with defects of genes involved in …
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy
Coenzyme Q10 (CoQ10) deficiency has been associated with an increasing number of
clinical phenotypes. Whereas primary CoQ10 defects are related to mutations in ubiquinone …
clinical phenotypes. Whereas primary CoQ10 defects are related to mutations in ubiquinone …