[HTML][HTML] Epilepsy in mitochondrial diseases—current state of knowledge on aetiology and treatment
D Wesół-Kucharska, D Rokicki, A Jezela-Stanek - Children, 2021 - mdpi.com
Mitochondrial diseases are a heterogeneous group of diseases resulting from energy deficit
and reduced adenosine triphosphate (ATP) production due to impaired oxidative …
and reduced adenosine triphosphate (ATP) production due to impaired oxidative …
[HTML][HTML] New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre
E Pronicka, D Piekutowska-Abramczuk, E Ciara… - Journal of translational …, 2016 - Springer
Background Whole-exome sequencing (WES) has led to an exponential increase in
identification of causative variants in mitochondrial disorders (MD). Methods We performed …
identification of causative variants in mitochondrial disorders (MD). Methods We performed …
Reactive oxygen species and synthetic antioxidants as angiogenesis modulators: clinical implications
DM Radomska-Leśniewska, A Hevelke… - Pharmacological …, 2016 - Elsevier
Angiogenesis is important for normal functioning of organism and its disturbances are
observed in many diseases, called angiogenesis-related states. Reactive oxygen species …
observed in many diseases, called angiogenesis-related states. Reactive oxygen species …
[HTML][HTML] Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 …
E Pronicka, E Ciara, P Halat, A Janiec, M Wójcik… - Journal of applied …, 2017 - Springer
Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by
severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The …
severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The …
[PDF][PDF] NAXE mutations disrupt the cellular NAD (P) HX repair system and cause a lethal neurometabolic disorder of early childhood
LS Kremer, K Danhauser, D Herebian… - The American Journal of …, 2016 - cell.com
To safeguard the cell from the accumulation of potentially harmful metabolic intermediates,
specific repair mechanisms have evolved. APOA1BP, now renamed NAXE, encodes an …
specific repair mechanisms have evolved. APOA1BP, now renamed NAXE, encodes an …
Angiomodulatory properties of Rhodiola spp. and other natural antioxidants
DM Radomska-Leśniewska, P Skopiński… - … European Journal of …, 2015 - termedia.pl
Disturbances of angiogenesis and oxidative stress can lead to many serious diseases such
as cancer, diabetes or ischemic heart disease. Substances neutralizing oxidative stress are …
as cancer, diabetes or ischemic heart disease. Substances neutralizing oxidative stress are …
[HTML][HTML] Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Abstract Background Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is
essential for the assembly of mitochondrial respiratory chain complex I. Disease causing …
essential for the assembly of mitochondrial respiratory chain complex I. Disease causing …
[PDF][PDF] Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype
Complex I deficiency is the most common biochemical phenotype observed in individuals
with mitochondrial disease. With 44 structural subunits and over 10 assembly factors, it is …
with mitochondrial disease. With 44 structural subunits and over 10 assembly factors, it is …
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
M Huemer, R Mulder-Bleile, P Burda… - Journal of inherited …, 2016 - Springer
Background Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare
inborn defect disturbing the remethylation of homocysteine to methionine (< 200 reported …
inborn defect disturbing the remethylation of homocysteine to methionine (< 200 reported …
[PDF][PDF] NDUFB8 mutations cause mitochondrial complex I deficiency in individuals with Leigh-like encephalomyopathy
D Piekutowska-Abramczuk, Z Assouline… - The American Journal of …, 2018 - cell.com
Respiratory chain complex I deficiency is the most frequently identified biochemical defect in
childhood mitochondrial diseases. Clinical symptoms range from fatal infantile lactic …
childhood mitochondrial diseases. Clinical symptoms range from fatal infantile lactic …