ENFERMEDAD DE LUCEY DRISCOLL PDF

Acute intermittent porphyria AIP is a rare autosomal dominant metabolic disorder affecting the production of heme resulting from a deficiency of the porphobilinogen deaminase. It is the most common of the acute porphyrias. The clinical presentation of AIP is highly variable and non-specific. The patients are typically asymptomatic, with most gene carriers having no family history because the condition had remained latent for several generations.

Author:Bradal Yozshukora
Country:Gabon
Language:English (Spanish)
Genre:Automotive
Published (Last):6 June 2015
Pages:140
PDF File Size:6.34 Mb
ePub File Size:3.57 Mb
ISBN:214-7-70817-528-4
Downloads:76773
Price:Free* [*Free Regsitration Required]
Uploader:Brar



Juan Sergio Cardona. Cultura Del Cuidado , 14 1 , Citas l. Maisels, M. In Neonatology: pathophysiology and management of the newborn; Avery, G. In Neonatal Jaundice; i Maisels, M. Dennery, P. NeoReviews 2, ee Homozygous variant of UGTlAl gene mutation and severe neonatal hyperbilirubinemia.

Mauro Y, Nishizawa K. Kaga, A. BMC Research Notes ;51 Clin Chim Acta l ; Genetic lesions of bilirubin uridine-diphospho glucuronate glucuronosyltransferase UGTlAl causing CriglerNajjar and Gilbert syndromes: correlation of genotype to phenotype. Hum Mutat ; Accessed December 14, Chronic nonhe- molytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency: evidence for genetic heterogeneity.

Trans Assoc Am Physi- cians ; Crigler-Najjar syndrome type II with kernicterus. Indian Pediatr ; Ostrow JD. Photocatabolism of labeled bilirubin in the congenitally jaundiced Gunn rat. JClininvest ; Clin Pharmacol Ther ; Jennifer M. Skierka, BS, Katrina E. Kotzer, MS, Susan A.

Lagerstedt, BS, Dennis J. Mantenerme conectado. No account? Register here.

MANOVA FILETYPE PDF

Crigler–Najjar syndrome

Crigler-Najjar syndrome. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. Philadelphia, PA: Elsevier Saunders; Total knee arthroplasty and Crigler-Najjar syndrome : a case report.

BUDIDAYA TANAMAN GAHARU PDF

Acute intermittent porphyria

Juan Sergio Cardona. Cultura Del Cuidado , 14 1 , Citas l. Maisels, M. In Neonatology: pathophysiology and management of the newborn; Avery, G.

ARCHITECTURE OF SHARC PROCESSOR PDF

Lucey-Driscoll syndrome

Crigler—Najjar syndrome is a rare inherited disorder affecting the metabolism of bilirubin , a chemical formed from the breakdown of the heme in red blood cells. The disorder results in a form of non hemolytic jaundice , which results in high levels of unconjugated bilirubin and often leads to brain damage in infants. The disorder is inherited in an autosomal recessive manner. This syndrome is divided into types I and II, with the latter sometimes called Arias syndrome. These two types, along with Gilbert's syndrome , Dubin—Johnson syndrome , and Rotor syndrome , make up the five known hereditary defects in bilirubin metabolism.

Related Articles