منابع مشابه
Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports
INTRODUCTION Hutchinson-Gilford progeria syndrome is a rare pediatric genetic syndrome with an incidence of one per eight million live births. The disorder is characterized by premature aging, generally leading to death due to myocardial infarction or stroke at approximately 13.4 years of age. The genetic diagnosis and special clinical manifestation in two Han Chinese siblings observed at our c...
متن کاملDmd063479 1208..1217
We developed murine Cyp3a knockout (KO) chimeric mice with humanized liver expressing human P450s similar to those in humans and whose livers and small intestines do not express murine Cyp3a. This approach may overcome effects of residual mouse metabolic enzymes like Cyp3a in conventional chimeric mice with humanized liver, such as PXB-mice [urokinase plasminogen activator/severe combined immun...
متن کاملNonketotic hyperglycinemia in two siblings with neonatal seizures.
Seizures are a common problem in neonates. Differential diagnoses include infection, trauma, hypoxia and congenital metabolic disorders. Among these, congenital metabolic disorder is less familiar to general pediatricians. We report two patients with nonketotic hyperglycinemia (NKH), a rare and lethal congenital metabolic disease. Transient hyperammonemia and transient hypouricemia, uncommon fe...
متن کاملHutchinson-Gilford Progeria Syndrome
The Hutchinson-Gilford syndrome or progeria is a laminopathy generated by mutations that affect LMNA gene. This produces an abnormal protein named progerine which alters the formation of the cellular membrane inducing premature aging of all cells. In the present review aspects related to the pathophysiology and clinical characteristics of this syndrome are shown.
متن کاملAPPARENT MINERALOCORTICOID EXCESS IN THREE SIBLINGS
Three siblings (1 boy, 2 girls) with hypertension and hypokalemia are presented, two with low plasma aldosterone and suppressed renin activity and the eldest with a high renin and aldosterone level due to secondary changes in her kidneys. Urinary tetrahydrocortisol (THF) was increased relative to tetrahydrocortisone (THE). Cortisol ring A reduction constant was also lower than normal. Thes...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Research
سال: 1981
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198104001-01243