Macedonian
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
13 резултати
[Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)].
Само регистрираните корисници можат да преведуваат статии
Пријавете се / пријавете се
Congenital methylmalonic aciduria (MMA) is a metabolic disorder inherited by an autosomal recessive trait. The metabolic block is located in the catabolic pathway of propionyl-CoA to succinyl-CoA. Biochemically, four enzymatic defects have been recognized, i.e.: 1. Methylmalonyl-CoA racemase. 2.
[Diagnosis and follow up of 23 children with organic acidurias].
Само регистрираните корисници можат да преведуваат статии
Пријавете се / пријавете се
BACKGROUND
Propionic aciduria (PA) and Methymalonic aciduria (MMA) result from an inherited abnormality of the enzymes propionyl CoA carboxylase and methylmalonyl CoA mutase respectively. This produces marked increases in the amino acids methionine, threonine, valine and isoleucine (MTVI). Their
Organic acid disorders.
Само регистрираните корисници можат да преведуваат статии
Пријавете се / пријавете се
Organic acids (OAs) are intermediary products of several amino acid catabolism or degradation via multiple biochemical pathways for energy production. Vitamins or co-factors are often quintessential elements in such degradation pathways and OA metabolism. OAs that result from enzyme defects in these
[Familial amyloidotic polyneuropathy with a transthyretin variant (Val30-->Leu)].
Само регистрираните корисници можат да преведуваат статии
Пријавете се / пријавете се
We report a Japanese woman with familial amyloidotic polyneuropathy (FAP) with a transthyretin variant that substituted leucine for valine at position 30. Family history was not informative. She had initially suffered from repeated petechiae in the eyelids at the age of 51. Two years later,
Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography-mass spectrometry.
Само регистрираните корисници можат да преведуваат статии
Пријавете се / пријавете се
The chiral metabolites 3-hydroxyisobutyric acid (HIBA) and 3-aminoisobutyric acid (AIBA) are intermediates in the pathways of L-valine and thymine and play an important role in the diagnosis of the very rare inherited metabolic diseases 3-hydroxyisobutyric aciduria (McKusick 236975) and
A Randomized Controlled Trial Assessing Growth of Infants Fed a 100% Whey Extensively Hydrolyzed Formula Compared With a Casein-Based Extensively Hydrolyzed Formula.
Само регистрираните корисници можат да преведуваат статии
Пријавете се / пријавете се
This study compared the growth of healthy infants fed a hypoallergenic 100% whey-based extensively hydrolyzed formula (EHF) with Bifidobacterium lactis (test) with that of infants fed an extensively hydrolyzed casein formula (control). Formula-fed infants (14 ± 3 days) were randomized to test or
Maple syrup urine disease in Thai infants.
Само регистрираните корисници можат да преведуваат статии
Пријавете се / пријавете се
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, caused by a deficiency in activity of the branched chain alpha-keto acid dehydrogenase impairing the degradation of the branched-chain amino acids (leucine, isoleucine and valine). Classic MSUD usually manifests in the neonatal
Treatment of carbamyl phosphate synthetase deficiency with keto analogues of essential amino acids.
Само регистрираните корисници можат да преведуваат статии
Пријавете се / пријавете се
Congenital carbamyl phosphate synthetase deficiency was diagnosed by liver biopsy in a 13-year-old girl, alpha-Keto analogues of essential amino acids have been shown to spare nitrogen by reducing urea formation; hence, they were given to this patient in the hope of reducing hyperammonemia and
Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide.
Само регистрираните корисници можат да преведуваат статии
Пријавете се / пријавете се
A boy, aged 7 months, of consanguineous parents presented with an acute onset of vomiting, fever, nonketotic hypoglycemia and acidosis and died from cardiac arrest after ventricular fibrillation. He had hepatomegaly and echocardiographically a non-obstructive cardiomyopathy. Autopsy was not allowed.
TOLERANCE TO AMINO ACID MIXTURES AND CASEIN DIGESTS GIVEN INTRAVENOUSLY : GLUTAMIC ACID RESPONSIBLE FOR REACTIONS.
Само регистрираните корисници можат да преведуваат статии
Пријавете се / пријавете се
Several synthetic mixtures of natural and racemic crystalline amino acids suitable for the daily nitrogen requirement are tested in dogs for their tolerance upon intravenous injection. Certain mixtures of the ten essential amino acids plus non-essential amino acids exclusive of glutamic acid are
PLASMA PROTEIN PRODUCTION INFLUENCED BY AMINO ACID MIXTURES AND LACK OF ESSENTIAL AMINO ACIDS : A DEFICIENCY STATE RELATED TO UNKNOWN FACTORS.
Само регистрираните корисници можат да преведуваат статии
Пријавете се / пријавете се
When blood plasma proteins are depleted by bleeding with return of red cells suspended in saline (plasmapheresis) it is possible to bring dogs to a steady state of hypoproteinemia and a constant level of plasma protein production if the diet nitrogen intake is controlled and limited. Such dogs are
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
Само регистрираните корисници можат да преведуваат статии
Пријавете се / пријавете се
OBJECTIVE
Isobutyryl-CoA dehydrogenase deficiency is a defect in valine metabolism and was first reported in a child with cardiomyopathy, anemia, and secondary carnitine deficiency. We identified 13 isobutyryl-CoA dehydrogenase-deficient patients through newborn screening due to an elevation of
Clinical Pharmacokinetics and Safety of ALZ-801, a Novel Prodrug of Tramiprosate in Development for the Treatment of Alzheimer's Disease.
Само регистрираните корисници можат да преведуваат статии
Пријавете се / пријавете се
BACKGROUND
ALZ-801 is an orally available, valine-conjugated prodrug of tramiprosate. Tramiprosate, the active agent, is a small-molecule β-amyloid (Aβ) anti-oligomer and aggregation inhibitor that was evaluated extensively in preclinical and clinical investigations for the treatment of Alzheimer's
Најкомплетната база на податоци за лековити билки поддржана од науката
- Работи на 55 јазици
- Лекови од билки поддржани од науката
- Препознавање на билки по слика
- Интерактивна GPS мапа - означете ги билките на локацијата (наскоро)
- Прочитајте научни публикации поврзани со вашето пребарување
- Пребарувајте лековити билки според нивните ефекти
- Организирајте ги вашите интереси и останете во тек со истражувањето на новостите, клиничките испитувања и патентите
Напишете симптом или болест и прочитајте за билки што можат да помогнат, напишете билка и видете болести и симптоми против кои се користи.
* Сите информации се базираат на објавени научни истражувања
