Mongolian
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)
propionic acidemia/seizures
Холбоосыг санах ойд хадгалдаг
Хуудас 1 -аас 52 үр дүн
Valproate in the treatment of seizures associated with propionic acidemia.
Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
[Convulsions in neonatal period and infancy with rare etiology (neurogenetic disease)].
Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
Authors summarized the etiology of convulsions in neonatal period and infancy (hypoxia, intracranial hemorrhage, infections of central nervous system, metabolic background, chromosomal abnormalities, brain developmental abnormalities, benign neonatal convulsions, benign neonatal familial
Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients.
Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
N-carbamylglutamate (NCG) has been reported to decrease ammonia levels in patients with propionic aciduria (PA) and methylmalonic aciduria (MMA), but reports on clinical outcomes remain scant. Here, we report a retrospective series of four patients with neonatal PA treated with NCG at presentation.
Non-ketotic hyperglycinemia in two sibs with mild psycho-neurological symptoms.
Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
Non-ketotic hyperglycinemia (NKH) has been diagnosed in two sibs. At the age 2:5 years and 1:3 years respectively only moderate psycho-motor retardation and muscular hypotonia were seen in the elderly child while no psycho-neurological symptoms were seen in the younger sib. Neither of the children
[Methylmalonic aciduria associated with myoclonic convulsions, psychomotor retardation and hypsarrhythmia].
Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
BACKGROUND
Organic acidurias have long been known to cause neurological problems, such as convulsions, stupor, coma, and psychomotor and mental retardation. The organic acidurias include propionic aciduria, methylmalonic aciduria (MMA), isovaleric acidemia, lactic acidemia and glutaric acidemia type
Neurologic nonmetabolic presentation of propionic acidemia.
Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
BACKGROUND
Patients with propionic acidemia usually present in the neonatal period with life-threatening ketoacidosis, often complicated by hyperammonemia. It was thought that the neurologic abnormalities seen in this disease were exclusively the consequences of these acute crises. Experience with 2
Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia.
Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
Oxidative stress contributes to the pathogenesis of propionic acidemia (PA), a life threatening disease caused by the deficiency of propionyl CoA-carboxylase, in the catabolic pathway of branched-chain amino acids, odd-number chain fatty acids and cholesterol. Patients develop multisystemic
[Infant boy with propionic acidemia: anesthetic implications].
Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
A 12-month-old boy diagnosed with propionic acidemia underwent gastrostomy. The patient's general state was good and he was alert, but with reduced muscular tone (unstable when seated with support, floppy head) and with dystonic movements in all extremities. An electroencephalogram showed slightly
Chronic management and health supervision of individuals with propionic acidemia.
Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
Propionic acidemia is a relatively rare inborn error of metabolism. Individuals with propionic acidemia often have life-threatening episodes of hyperammonemia and metabolic acidosis, as well as intellectual disability. There are many reports of additional problems, including poor growth, stroke-like
[Propionic acidemia: one case report].
Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
A case of propionic acidemia is reported. The main features of this patient were recurrent vomiting, ketosis and occasional episodes of seizure. Serum concentrations of propionic acid and glycine were within the normal range. Blood ammonia was slightly elevated. Characteristic organic acids were
Epilepsy in patients with propionic acidemia.
Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
Propionic acidemia (PA) is an autosomal recessively inherited defect of propionyl-CoA carboxylase with an incidence of approximately 1:50 000. There are few reports on the occurrence of EEG findings and development of epilepsy in patients with PA. Retrospectively, the data of 17 patients with PA
Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child.
Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
Propionic acidemia (PA) is a rare organic acidemia resulting from a deficiency of the mitochondrial enzyme propionyl-coenzyme A carboxylase. Most cases are diagnosed after the detection of metabolic abnormalities-such as hyperammonemia, metabolic acidosis, and ketosis-associated with complaints of
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients.
Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
Propionic acidemia is an inborn error of metabolism that is inherited in an autosomal recessive manner. It is characterized by a deficient propionyl-CoA carboxylase due to mutations in either of its beta or alpha subunits. In the literature, there is a clear association between propionic acidemia
Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia.
Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
Propionic acidemia is a metabolic disorder (OMIM 606054) caused by deficiency of the propionyl-coenzyme A (CoA) carboxylase, which subsequently results in accumulation of propionic acid. Patients may initially present with poor feeding, vomiting, loss of appetite, hypotonia, and lethargy. Later,
Neurologic considerations in propionic acidemia.
Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой
Нэвтрэх / Бүртгүүлэх
Propionic acidemia (PA) is an organic acidemia which has a broad range of neurological complications, including developmental delay, intellectual disability, structural abnormalities, metabolic stroke-like episodes, seizures, optic neuropathy, and cranial nerve abnormalities. As the PA consensus
Шинжлэх ухаанаар баталгаажсан эмийн өвс ургамлын бүрэн мэдээллийн сан
- 55 хэл дээр ажилладаг
- Шинжлэх ухааны үндэслэсэн ургамлын гаралтай эдгэрэлт
- Ургамлыг дүрсээр таних
- Интерактив GPS газрын зураг - эмийн ургамлыг байршлаар нь тэмдэглэнэ (удахгүй)
- Хайлттай холбоотой шинжлэх ухааны нийтлэлүүдийг уншина уу
- Эмийн өвсийг үр нөлөөгөөр нь хайж олох
- Мэдээллийн судалгаа, клиник туршилт, патентыг цаг тухайд нь сонирхож, зохион байгуул
Шинж тэмдэг эсвэл өвчний талаар бичиж, тус болох ургамлын талаар уншиж, өвслөг ургамлыг бичиж, өвчний эсрэг шинж тэмдгийг үзээрэй.
* Бүх мэдээлэл нь хэвлэгдсэн эрдэм шинжилгээний судалгаанд үндэслэсэн болно
