galactosemias/seizures

Saite tiek saglabāta starpliktuvē

RakstiKlīniskie pētījumiPatenti

Izvēlieties kārtošanas veidu

Lappuse 1 no 21 rezultātiem

Galactosemia and phantom absence seizures.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Generalized and focal seizures can rarely be seen in galactosemia patients, but absence seizures were not reported previously. An 18-year-old male was diagnosed as galactosemia at the age of 8 months. No family history of epilepsy was present. His absence seizures realized at the age of 9 years.

Erythrocyte membrane acetylcholinesterase, Na+, K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

BACKGROUND Classical galactosaemia is commonly presented by high blood galactose (Gal) and galactose-1-phosphate (Gal-1-P) levels followed by mental retardation, seizures, etc. dependent on the mutation of the patients. OBJECTIVE To evaluate Gal and Gal-1-P in the blood of patients and to correlate

Web medical information produces anxiety in parents of infants with suspected galactosemia.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Parents had already taken information about galactosemia from web medical pages because they were asked for a second blood sample from their infant suspected for the disease. All enzyme types of this disorder are diagnosed by neonatal screening perinatally and treated with a galactose (GAL) free

Galactosemia with chorea--an unusual presentation.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Galactosemia, an inborn neurometabolic disorder, results from an aberrant galactose metabolism due to the deficiency of serum galactose-1-phosphate uridyltransferase activity. It manifests in the central nervous system in the form of hypotonia, seizures, mental retardation, tremor, ataxia, and

Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Classic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia is not included in Egyptian neonatal screening program. The study aimed to define clinical presentation and

[Clinical investigation and mutation analysis of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia].

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

OBJECTIVE To analyze the clinical features and SLC25A13 gene mutations of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia. METHODS The patient was subjected to physical examination and routine laboratory tests. Blood amino acids and acylcarnitines, and

[Decompensated liver cirrhosis caused by galactosemia in a 52-year-old man].

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

A 52-year-old oligophrenic man hospitalized for esophageal hemorrhage had histologically proven liver cirrhosis and died from massive rehemorrhage. As a neonate he had survived severe jaundice, had had delayed psychomotor development and remained severely retarded. At age 15 years, bilateral

Association of Escherichia coli sepsis and galactosemia in neonates.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and mental retardation. If the preliminary evaluation indicates

Galactokinase deficiency in a patient with congenital hyperinsulinism.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

BACKGROUND Galactokinase catalyses the first committed step in galactose metabolism, the conversion of galactose to galactose-1-phosphate. Galactokinase deficiency is an extremely rare form of galactosaemia, and the most frequent complication reported is cataracts. Congenital hyperinsulinism (CHI)

[Congenital hypothyroidism missed on newborn screening: report of two cases].

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Two male term babies were born at Mackay Memorial Hospital; both were born without incident. Newborn screenings (including phenylketonuria, homocystinuria, galactosemia, congenital hypothyroidism and G-6-PD deficiency) were performed at the age of three days and judged to be normal. In the later

Late haemorrhagic disease of the newborn.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

BACKGROUND Late haemorrhagic disease of the newborn (HDN) can occur owing to a lack of vitamin K prophylaxis, as a manifestation of an underlying disorder or idiopatically from the 8th day to 12 weeks after birth. METHODS Eight infants admitted to Kocaeli University Hospital with nine episodes of

[Application of a clinical and laboratory protocol for the investigation of inborn errors of metabolism among critically ill children]

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

OBJECTIVE: The aim of this work was to evaluate a protocol for investigation of Inborn Errors of Metabolism (IEM) in children who are acutely ill.METHODS: Forty six children with clinical suspicion of a metabolic disorder were studied during 2 years. They were selected through request for

Mutational analysis of the GALT gene in Filipino patients.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Classic galactosemia is an inherited metabolic disorder due to mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. This study describes the results of the GALT gene analysis of four unrelated Filipino patients with Classic Galactosemia. DNA extracted from dried blood spots and

A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Short-chain acyl-CoA dehydrogenase (ACAD) deficiency is an extremely rare inherited mitochondrial disorder of fat metabolism. This belongs to a group of diseases known as fatty acid oxidation disorders. Screening programmes have provided evidence that all the fatty acid oxidation disorders combined

Clinical approach to inherited metabolic disorders in neonates: an overview.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

There are almost one hundred inborn errors of metabolism which can start in the neonatal period, but less than 20 are amenable to treatment. In general, an extremely evocative clinical setting is the course of a full-term baby born after normal pregnancy and delivery who, after an initial

Iepriekšējais
1
2
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