This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. [books.google.com]

At age 25 years she presented with progressive exertion-related dyspnoea and palpitations and was provisionally diagnosed with asthma. [clinsci.org]

Values are presented as means ± se of determinations on six individual plants grown for 2 weeks on plates and then for 4 weeks in soil. [plantphysiol.org]

Furthermore, the microarray data presented here display few of the trademark features of cell autonomous regulation. [plantcell.org]

[…] a) NADH dehydrogenase complex b) Cytochrome a-a3 oxidase c) Succinate dehydrogenase d) Cytochrome bc 1 -c reductase Q.10-A child has accidentally ingested a chemical and has presented with high fever.The chemical is known to affect ATP formation in electron [namrata.co]

• Weakness

  Treatment with coenzyme Q 10 improved the muscle weakness, but not the encephalopathy. Body_ID: PB08005 Comment. [aris.gusc.lv]

  […] with dilated cardiomyopathy (and heart failure in childhood), [4] hemolytic uremic syndrome and rhabdomyolysis, congenital dislocation of the hip joint, progressive encephalomyopathy (a disorder affecting the brain and skeletal muscle, usually causing weakness [rarediseases.info.nih.gov]

  Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. [genecards.org]

  She did not have significant demonstrable clinical weakness at rest [Medical Research Council (MRC) 5/5]; however, subtle upper and lower limb proximal weakness (MRC 4+/5) was evident following minimal exertion (marching in place ten times). [clinsci.org]

• Poor Growth

  Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. [genecards.org]

  Other symptoms—including sinus infections, poor growth, and infertility—affect other parts of the body. CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). [ecitydoc.com]

• Infertility

  Other symptoms—including sinus infections, poor growth, and infertility—affect other parts of the body. CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). [ecitydoc.com]

• Short Stature

  stature-facial dysmorphism syndrome 3 Cases 352530 Intellectual disability-obesity- brain malformations-facial dysmorphism syndrome 2 Cases 397973 Intellectual disability-obesity- prognathism-eye and skin anomalies syndrome 2 Cases 369837 Intellectual [azkurs.org]

• Eating Problem

  The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing ( dysphagia ) that leads to eating problems. Click here to visit Genetics Home Reference and learn more about Leigh syndrome. [rarediseases.info.nih.gov]

• Vomiting

  The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing ( dysphagia ) that leads to eating problems. Click here to visit Genetics Home Reference and learn more about Leigh syndrome. [rarediseases.info.nih.gov]

  By 28 years of age, muscle weakness and fatigue with exercise-induced headache, vomiting, cardiac palpitations and syncope were prominent and a metabolic acidosis with elevated serum lactate was detected ( Table 1 ). [clinsci.org]

• Dysphagia

  The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing ( dysphagia ) that leads to eating problems. Click here to visit Genetics Home Reference and learn more about Leigh syndrome. [rarediseases.info.nih.gov]

  Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. [uniprot.org]

• Diarrhea

  The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing ( dysphagia ) that leads to eating problems. Click here to visit Genetics Home Reference and learn more about Leigh syndrome. [rarediseases.info.nih.gov]

  […] granulomatous dermatitis with arthritis 53 Cases 182095 Interstitial lung disease 5.4 I * 92050 Intestinal epithelial dysplasia 1.5 BP * 314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 16 Cases 137622 Intractable diarrhea-choanal [azkurs.org]

• Psychomotor Retardation

  It causes cognitive impairment, increased muscle tone, and hyperactive reflexes. [1] Inheriting two SDHD gene mutations can cause progressive loss of mental and movement abilities (psychomotor retardation), and seizures. [rarediseases.info.nih.gov]

  retardation-progressive brain atrophy-basal ganglia disease syndrome 4 Cases 293168 Infantile-onset ascending hereditary spastic paralysis 17 Families 457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome [azkurs.org]

  Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. [uniprot.org]

• Seizure

  There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. [books.google.com]

  It causes cognitive impairment, increased muscle tone, and hyperactive reflexes. [1] Inheriting two SDHD gene mutations can cause progressive loss of mental and movement abilities (psychomotor retardation), and seizures. [rarediseases.info.nih.gov]

  hypotonia-ophthalmologic- skeletal anomalies syndrome 4 Cases 369950 Intellectual disability-seizures- macrocephaly-obesity syndrome 7 Cases ORPHA Number Disease or Group of diseases Estimated prevalence/incidence (/100,000) Number of published cases [azkurs.org]

  Isolated complex II deficiency was first inferred in 2 siblings with mental retardation, seizures, myoclonus, and ataxia ( Riggs et al 1984 ). [medlink.com]

  A RARE COENZYME Q 10 DEFICIENCY Body_ID: B008004 A 4-year-old boy presented with seizures, progressive muscle weakness, and encephalopathy. [aris.gusc.lv]

• Psychomotor Regression

  This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. [rarediseases.info.nih.gov]

  Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. [genecards.org]

• Psychomotor Regression in Infants

  Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. [genecards.org]

• Hyperactivity

  It causes cognitive impairment, increased muscle tone, and hyperactive reflexes. [1] Inheriting two SDHD gene mutations can cause progressive loss of mental and movement abilities (psychomotor retardation), and seizures. [rarediseases.info.nih.gov]

This approach afforded a small library of bitriazolyl compounds in excellent yields with a simplified workup procedure, without requirement for tedious chromatographic purification. [pubs.rsc.org]

This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. [books.google.com]

Subsequentely, the effects of refrigeration and acidification treatments of grape pomace on dynamics of yeast populations during the storage period have been studied. [research.unipd.it]

Google Scholar Bernsen PLJA, Gabreëls FJM, Ruitenbeek W, Hamburger HL (1993) Treatment of complex I deficiency with riboflavin. J Neurol Sci 118 : 181–187. [link.springer.com]

Treatment with coenzyme Q 10 improved the muscle weakness, but not the encephalopathy. Body_ID: PB08005 Comment. [aris.gusc.lv]

[…] deletion Ataxia, Hypogonadism & Choroidal dystrophy: Multiple deletion Isolated Complex I deficit: Nuclear mutations Clinical features: General Nuclear mutations more common than mitochondrial Onset: Childhood; Mean = 4 to 5 months Male:Female = 3.5:1 Prognosis [neuromuscular.wustl.edu]

Niemeijer, The Journal of clinical endocrinology and metabolism 2015 ( PubMed ) GeneRIF : This study strengthens the etiological association of SDH genes with pituitary neoplasia, renal tumorigenesis, and gastric gastrointestinal stromal tumors. [papers.genomics.lbl.gov]

[…] succinate-coenzyme Q reductase deficiency - Isolated succinate-ubiquinone reductase deficiency Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

Wang, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008 GeneRIF : Observational study of gene-disease association. [papers.genomics.lbl.gov]

It provides complete, authoritative information on the biology of the newborn and the pathophysiology and management of diseases during the neonatal period. [books.google.com]

Additional studies have involved their use in the possible prevention of, and therapy for, disease conditions. [books.google.com]

This selective effect of NO and derived species was partially prevented by superoxide dismutase and uric acid. In addition, peroxynitrite mimicked the effect of NO, including tyrosine nitration of some Complex I proteins. [biochemj.org]

Its role is to prevent the interaction of the intermediate with molecular oxygen to produce reactive oxygen species (ROS). The heme group, relative to ubiquinone, is shown in image 4. [en.wikipedia.org]

Wang, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008 GeneRIF : Observational study of gene-disease association. [papers.genomics.lbl.gov]

[…] consumption (oxidation) will: be increased in active muscle, decreased in inactive muscle, be very low if the ATP synthase is inhibited, but increase when an uncoupler is added, decrease if mitochondrial ADP is depleted, decrease when cyanide is used to prevent [quizlet.com]