Síndrome de Alagille Alagille syndrome

Síndrome de Alagille Alagille syndrome

El síndrome de Alagille es un trastorno genético cuya manifestación fundamental es una colestasis crónica producida por una hipoplasia de las vías biliares intrahepáticas, y se asocia a malformaciones congénitas cardiacas, renales y esqueléticas en pacientes con un fenotipo peculiar. Tiene una frecu...

Full description

Bibliographic Details
Main Authors:	Yuri Betancourt Guerra, Rosa María Espino Delgado, Yanet Reyes Mejías, Marien Villafaña Carmenate
Format:	Article
Language:	Spanish
Published:	Editorial Ciencias Médicas 2013-03-01
Series:	Revista Cubana de Pediatría
Subjects:	síndrome de Alagille colestasis hipoplasia biliar Alagille syndrome cholestasis biliary hypoplasia
Online Access:	http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-75312013000100013

Similar Items

Síndrome de Alagille
by: Yuri Betancourt Guerra, et al.
Published: (2013-03-01)

Permasalahan Diagnostik Sindrom Alagille
by: Purnamawati SP, et al.
Published: (2016-12-01)

Alagille syndrome in children
by: G. V. Volynets, et al.
Published: (2020-05-01)

Alagille syndrome: Review of 14 patients
by: Purnamawati S. Pujiarto, et al.
Published: (2017-02-01)

Alagille syndrome with moyamoya disease
by: Rubaiyat Alam, et al.
Published: (2017-09-01)

Alagille syndrome: clinical perspectives
by: Saleh M, et al.
Published: (2016-06-01)

Alagille syndrome and a mutation: 41 cases of experience at a single center
by: Kyung Jin Ahn, et al.
Published: (2015-10-01)

ULTRASONIC POSSIBILITIES OF DIAGNOSING CHANGES IN KIDNEYS OF CHILDREN WITH ALAGILLE SYNDROME
by: M. I. PYKOV, et al.
Published: (2017-07-01)

A case of Alagille syndrome presenting with chronic cholestasis in an adult
by: Jihye Kim, et al.
Published: (2017-09-01)

Macrodontic maxillary incisor in alagille syndrome
by: Mauro Cozzani, et al.
Published: (2012-01-01)

Manganese Poisoning in Alagille’s Syndrome
by: J Gordon Millichap
Published: (1992-11-01)

Alagille syndrome- A rare autosomal dominant disorder
by: Rizwan-U-Zama, et al.
Published: (2018-01-01)

Alagille Syndrome Associated with Xerophthalmia
by: Elad Moisseiev, et al.
Published: (2013-12-01)

Arteriohepatic Dysplasia (Alagille Syndrome) in a Child (Clinical Case)
by: Ye.V. Omelchenko, et al.
Published: (2015-03-01)

Two Novel Mutations in the <i>JAG1</i> Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic
by: Dagmar Prochazková, et al.
Published: (2021-05-01)

Você conhece esta síndrome? Do you know this syndrome?
by: Cláudia Márcia Resende Silva, et al.
Published: (2008-06-01)

Síndrome de Alagille: Presentación de un caso Alagilles syndrome: report of a case
by: Fernando Alberto Gutiérrez Mendoza, et al.
Published: (1999-02-01)

Therapeutics Development for Alagille Syndrome
by: Phillip Sanchez, et al.
Published: (2021-08-01)

DUCT reveals architectural mechanisms contributing to bile duct recovery in a mouse model for Alagille syndrome
by: Simona Hankeova, et al.
Published: (2021-02-01)

Hepatocellular carcinoma in an adult with Alagille syndrome: case report and literature review
by: Karla Schoen, MD, et al.
Published: (2021-01-01)

Alagille Syndrome: A Novel Mutation in JAG1 Gene
by: Rita Fischetto, et al.
Published: (2019-05-01)

Comportamiento de la colestasis del recién nacido y del lactante en el Hospital Pediátrico «William Soler» Behavior of newborn and infant cholestasis in the "William Soler" Children Hospital
by: Norma Hondal Álvarez, et al.
Published: (2010-12-01)

Characteristics and Outcome of Liver Transplantation in Children with Alagille Syndrome: A Single-center Experience
by: Chi-Ning Lee, et al.
Published: (2014-04-01)

From chronic cholestasis to liver transplantation
by: Irina Dijmarescu, et al.
Published: (2020-12-01)

Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome
by: Yiyao Chen, et al.
Published: (2020-01-01)

Perioperative Management of Subarachnoid Hemorrhage in a Patient with Alagille Syndrome and Unrepaired Tetralogy of Fallot: Case Report
by: Juan Fiorda-Diaz, et al.
Published: (2017-12-01)

Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome
by: Malgorzata Ponikowska, et al.
Published: (2020-10-01)

Alagille Syndrome: Diagnostic Challenges and Advances in Management
by: Mohammed D. Ayoub, et al.
Published: (2020-11-01)

Extracranial and Intracranial Vasculopathy With “Moyamoya Phenomenon” in Association With Alagille Syndrome
by: Siobhan Delaney, et al.
Published: (2019-01-01)

A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report
by: Girish Kumar Pati, et al.
Published: (2016-11-01)

De la sindromul de colestază la transplantul hepatic
by: Irina Dijmărescu, et al.
Published: (2020-12-01)

Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review
by: Michele Pinon, et al.
Published: (2019-02-01)

Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 20p (20p12-p13) encompassing JAG1 and a literature review of prenatal diagnosis of Alagille syndrome
by: Chih-Ping Chen, et al.
Published: (2017-06-01)

Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region
by: Ferreira Susana, et al.
Published: (2012-05-01)

Pattern of ocular manifestations in Egyptian infants with cholestatic disorders
by: Dalia H Khalil, et al.
Published: (2016-01-01)

Capillary Malformation–Arteriovenous Malformation Combined Alagille Syndrome in a Patient With Double Gene Variations of RASA1 and NOTCH2
by: Yu Zheng, et al.
Published: (2019-11-01)

Colestasis del recién nacido y del lactante Cholestasis of newborn and infant
by: Norma Hondal Álvarez, et al.
Published: (2010-09-01)

Les cellules B de la zone marginale chez l’homme : un lignage NOTCH 2 dépendant
by: Descatoire, Marc
Published: (2013)

Comportamiento de la colestasis del recién nacido y del lactante en el Hospital Pediátrico «William Soler»
by: Norma Hondal Álvarez, et al.
Published: (2010-12-01)

Ictericia mecánica por páncreas anular: Presentación de un caso
by: Saúl Armenteros Terán, et al.
Published: (1997-12-01)