ornithine carbamoyltransferase deficiency disease/carbohydrate

Povezava se shrani v odložišče

ČlankiKliničnih preskušanjPatenti

Izberite vrsto razvrščanja

6 rezultatov

Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

OBJECTIVE The aims of this report are to 1) present a rare case of fatal cerebral edema associated with late-onset ornithine transcarbamylase (OTC) deficiency in a juvenile male patient receiving valproic acid and 2) review the neuropathologic changes associated with the hyperammonemia. METHODS Case

Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Eighty-five clinical urine samples and nineteen urine samples previously found by other laboratories to suggest genetic metabolic defects were prepared for trimethylsilylation by treatment with urease, followed by azeotropic dehydration. The "Target Analyte Search" program provided with the VG Trio

Impact of selected inborn errors of metabolism on prenatal and neonatal development.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

In general, data regarding maturational processes of different metabolic pathways in the very vulnerable fetal and neonatal period are rare. This review is to substantiate the impact of selected inborn errors of metabolism on this critical period of life and their clinical manifestation. Significant

Bizarre behavior and decreased level of consciousness in an adult patient.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

This case report presents an adult patient with decreased levels of consciousness and bizarre behavior. A silent delirium was first suspected however, symptoms did not improve and further examination revealed elevated ammonia levels. A hepatic cause and portosystemic shunting were excluded and

Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarum.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Inborn urea cycle disorders are under-recognised metabolic causes of hyperammonemia in adults. A 28-year-old primigravida, seven weeks pregnant, affected by hyperemesis gravidarum developed acute liver injury (ALI) and then acute liver failure (ALF) in less than 48 h. Because the patient developed

Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

OBJECTIVE To estimate at the national level the overall and disease-specific incidence of inborn errors of metabolism not mass screened at birth. METHODS Prospective nonconcurrent study (1985-1997) on patients 0 to 17 years of age, diagnosed in 23 Italian pediatric reference centers. RESULTS Cases

Pridružite se naši
facebook strani

Herbal & Natural Medicine

Najbolj popolna baza zdravilnih zelišč, podprta z znanostjo

Deluje v 55 jezikih
Zeliščna zdravila, podprta z znanostjo
Prepoznavanje zelišč po sliki
Interaktivni GPS zemljevid - označite zelišča na lokaciji (kmalu)
Preberite znanstvene publikacije, povezane z vašim iskanjem
Iščite zdravilna zelišča po njihovih učinkih
Organizirajte svoje interese in bodite na tekočem z raziskavami novic, kliničnimi preskušanji in patenti

Vnesite simptom ali bolezen in preberite o zeliščih, ki bi lahko pomagala, vnesite zelišče in si oglejte bolezni in simptome, proti katerim se uporablja.
* Vse informacije temeljijo na objavljenih znanstvenih raziskavah