carboxylase/seizures

Saite tiek saglabāta starpliktuvē

Izvēlieties kārtošanas veidu

Lappuse 1 no 63 rezultātiem

Cerebral pyruvate carboxylase flux is unaltered during bicuculline-seizures.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Glutamine synthesis in the astroglia reflects the sum of neurotransmitter cycling (glutamate and gamma-aminobutyric acid [GABA]) and de novo synthesis (anaplerosis), the latter catalyzed by pyruvate carboxylase. Previous studies have shown that the glutamate plus GABA cycling flux is correlated

Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

A mildly retarded infant with failure to thrive developed hypoglycaemia, focal seizures, respiratory failure and hemiparesis during a febrile episode at the age of 16 months. A brain scan was initially normal and showed hemilateral focal edema and gliosis at later stages. 3-Methylcrotonyl-CoA

Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

A patient with isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency with an unusual clinical presentation is described. The patient presented with clusters of seizures with two or three months disease free interval in the first year of life which then evolved into attacks of status epilepticus

3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

A family with 3-methylcrotonyl-CoA carboxylase deficiency with different clinical features is described. A 15-month-old boy, who was the index patient, was admitted to the hospital with atonic seizure. His brother had delayed language development and their uncle had been followed with diagnosis of

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Late-onset multiple carboxylase deficiency is characterized clinically by skin rash, alopecia, seizures and ataxia and occasionally by candidiasis and developmental delay. Biochemically, these individuals exhibit findings consistent with a combined deficiency of the biotin-dependent carboxylases. We

Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Prominent neurological abnormalities, including myoclonus, seizures, ataxia, and hearing loss, have been noted in juvenile-onset biotin-responsive MCD. The underlying defect in many of these patients, who generally present in the first year of life, appears to be a deficiency of biotinidase. We have

Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Multiple carboxylase deficiency is characterized by deficient activities of three biotin-dependent enzymes, propionyl coenzyme A carboxylase, pyruvate carboxylase, and beta-methylcrotonyl coenzyme A carboxylase. A newborn infant was seen with metabolic ketoacidosis, hyperammonemia, organic aciduria,

Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

A 15-year-old girl with a former clinical diagnosis of cerebral palsy was found to have isolated deficiency of 3-methylcrotonyl-CoA carboxylase (MCC) on gas chromatography-mass spectrometry (GC/MS) analysis and enzyme determination. Her symptoms included marked growth retardation from birth,

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

A patient with early-onset 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency showing a severe clinical course is described. Abnormal eye and head movements suggestive of seizures were noticed soon after birth. Tonic convulsions at the age of 10 weeks led to admission. Urinary organic acid

Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

A 4-month-old girl presented with myoclonic seizures and an electroencephalogram showing hypsarrhythmia. Hyperglycinuria and a cerebrospinal fluid to plasma glycine ratio of 0.2 suggested the diagnosis of non-ketotic hyperglycinaemia. Propionic acid and methyl citric acid were present in the urine,

Biochemical and histologic pathology in an infant with cross-reacting material (negative) pyruvate carboxylase deficiency.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

An infant with the acute neonatal form of pyruvate carboxylase deficiency (cross-reacting material negative) presented with severe intractable lactic acidosis within 4 h after birth. He also had hyperammonemia, hypercitrullinemia, and hyperlysinemia. Plasma glutamine was not elevated. He had a

Prolonged survival in pyruvate carboxylase deficiency: lack of correlation with enzyme activity in cultured fibroblasts.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

OBJECTIVE To report the clinical history and laboratory evaluation of a patient presenting with lactic acidosis secondary to pyruvate carboxylase deficiency. RESULTS Enzyme analysis of cultured skin fibroblasts revealed 2-5% of normal pyruvate carboxylase activity. Although most patients with this

A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

A severely mentally retarded infant with congenital lactic acidosis due to pyruvate carboxylase deficiency is reported. The patient suffered from vomiting and convulsions soon after birth and developed severe mental and motor retardation at 3 months of age. The persistent elevation of pyruvate and

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Deficiency of 3-methylcrotonyl-CoA carboxylase (MCC) results in elevated excretion of 3-methylcrotonylglycine (3-MCG) and 3-hydroxyisovaleric acid (3-HIVA). MCC is a heteromeric mitochondrial enzyme comprising biotin-containing alpha subunits and smaller beta subunits, encoded by MCCA and MCCB,

Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

The son of Kurdish, consanguineous parents (cousin marriage) presented from the first day of life with initially focal and later generalized attacks of epileptic seizures and a severe generalized muscular hypotonia. Urinary excretion of 3-hydroxyisovalerate and of 3-methylcrotonylglycine was

Iepriekšējais
1
2
3
4
5
Nākamais

Pievienojieties mūsu
facebook lapai

Herbal & Natural Medicine

Vispilnīgākā ārstniecības augu datu bāze, kuru atbalsta zinātne

Darbojas 55 valodās
Zāļu ārstniecības līdzekļi, kurus atbalsta zinātne
Garšaugu atpazīšana pēc attēla
Interaktīva GPS karte - atzīmējiet garšaugus atrašanās vietā (drīzumā)
Lasiet zinātniskās publikācijas, kas saistītas ar jūsu meklēšanu
Meklēt ārstniecības augus pēc to iedarbības
Organizējiet savas intereses un sekojiet līdzi jaunumiem, klīniskajiem izmēģinājumiem un patentiem

Ierakstiet simptomu vai slimību un izlasiet par garšaugiem, kas varētu palīdzēt, ierakstiet zāli un redziet slimības un simptomus, pret kuriem tā tiek lietota.
* Visa informācija ir balstīta uz publicētiem zinātniskiem pētījumiem