ornithine carbamoyltransferase deficiency disease/carbohydrate

Kiungo kimehifadhiwa kwenye clipboard

NakalaMajaribio ya klinikiHati miliki

Chagua aina ya aina

6 matokeo

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

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

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.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

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.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

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.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

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.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

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.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

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

Jiunge na ukurasa
wetu wa facebook

Herbal & Natural Medicine

Hifadhidata kamili ya mimea ya dawa inayoungwa mkono na sayansi

Inafanya kazi katika lugha 55
Uponyaji wa mitishamba unaungwa mkono na sayansi
Kutambua mimea kwa picha
Ramani ya GPS inayoshirikiana
Soma machapisho ya kisayansi yanayohusiana na utafutaji wako
Tafuta mimea ya dawa na athari zao
Panga maslahi yako na fanya tarehe ya utafiti wa habari, majaribio ya kliniki na ruhusu

Andika dalili au ugonjwa na usome juu ya mimea ambayo inaweza kusaidia, chapa mimea na uone magonjwa na dalili ambazo hutumiwa dhidi yake.
* Habari zote zinategemea utafiti wa kisayansi uliochapishwa