Cargando…

An Update on Laboratory Diagnosis of Liver Inherited Diseases

Liver inherited diseases are a group of genetically determined clinical entities that appear with an early chronic liver involvement. They include Wilson's disease (hepatolenticular degeneration), hereditary hemochromatosis, and alpha-1-antitrypsin deficiency. In addition, cystic fibrosis, alth...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zarrilli, Federica, Elce, Ausilia, Scorza, Manuela, Giordano, Sonia, Amato, Felice, Castaldo, Giuseppe
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2013
Materias:	Review Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3816025/ https://www.ncbi.nlm.nih.gov/pubmed/24222913 http://dx.doi.org/10.1155/2013/697940

Ejemplares similares

Genetic Diseases That Predispose to Early Liver Cirrhosis
por: Scorza, Manuela, et al.
Publicado: (2014)

Gene Mutation in MicroRNA Target Sites of CFTR Gene: A Novel Pathogenetic Mechanism in Cystic Fibrosis?
por: Amato, Felice, et al.
Publicado: (2013)

Congenital Diarrheal Disorders: An Updated Diagnostic Approach
por: Terrin, Gianluca, et al.
Publicado: (2012)

Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization
por: Cernera, Gustavo, et al.
Publicado: (2020)

Physical Activity Regulates TNFα and IL-6 Expression to Counteract Inflammation in Cystic Fibrosis Patients
por: Nigro, Ersilia, et al.
Publicado: (2021)

Adiponectin Expression Is Modulated by Long-Term Physical Activity in Adult Patients Affected by Cystic Fibrosis
por: Polito, Rita, et al.
Publicado: (2019)

Cystic Fibrosis Patients with F508del/Minimal Function Genotype: Laboratory and Nutritional Evaluations after One Year of Elexacaftor/Tezacaftor/Ivacaftor Treatment
por: Carnovale, Vincenzo, et al.
Publicado: (2022)

Exploitation of a Very Small Peptide Nucleic Acid as a New Inhibitor of miR-509-3p Involved in the Regulation of Cystic Fibrosis Disease-Gene Expression
por: Amato, Felice, et al.
Publicado: (2014)

Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea
por: Canani, Roberto Berni, et al.
Publicado: (2013)

Reply to Gambazza et al. Cystic Fibrosis, New Frontier: Exploring the Functional Connectivity of the Brain Default Mode Network. Comment on “Elce et al. Impact of Physical Activity on Cognitive Functions: A New Field for Research and Management of Cystic Fibrosis. Diagnostics 2020, 10, 489”
por: Elce, Ausilia, et al.
Publicado: (2021)

Lung Microbiome in Cystic Fibrosis
por: Scialo, Filippo, et al.
Publicado: (2021)

Molecular Analysis of Prothrombotic Gene Variants in Patients with Acute Ischemic Stroke and with Transient Ischemic Attack
por: Cernera, Gustavo, et al.
Publicado: (2021)

Clinical expression of cystic fibrosis in a large cohort of Italian siblings
por: Terlizzi, Vito, et al.
Publicado: (2018)

Impact of Physical Activity on Cognitive Functions: A New Field for Research and Management of Cystic Fibrosis
por: Elce, Valentina, et al.
Publicado: (2020)

Prenatal Diagnosis of Cystic Fibrosis and Hemophilia: Incidental Findings and Weak Points
por: Comegna, Marika, et al.
Publicado: (2019)

Peptide Nucleic Acids as miRNA Target Protectors for the Treatment of Cystic Fibrosis
por: Zarrilli, Federica, et al.
Publicado: (2017)

The Immune Response to SARS-CoV-2 Vaccine in a Cohort of Family Pediatricians from Southern Italy
por: Cortese, Paolo, et al.
Publicado: (2023)

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment
por: Vahlquist, Anders, et al.
Publicado: (2017)

Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the Art
por: Amato, Alessia, et al.
Publicado: (2021)

Non-alcoholic fatty liver disease: an update on diagnosis
por: DUMITRASCU, DAN L., et al.
Publicado: (2018)

Update in Laboratory Diagnosis of Thalassemia
por: Munkongdee, Thongperm, et al.
Publicado: (2020)

Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism
por: Sitarska, Dominika, et al.
Publicado: (2019)

Pseudo‐Bartter syndrome in infant with cystic fibrosis screen positive, inconclusive diagnosis: A case report
por: Sepe, Angela, et al.
Publicado: (2023)

The inherited cerebellar ataxias: an update
por: Coarelli, Giulia, et al.
Publicado: (2022)

Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases
por: Chen, Huey-Ling, et al.
Publicado: (2018)

Update on the Laboratory Diagnosis of Invasive Fungal Infections
por: Posteraro, Brunella, et al.
Publicado: (2011)

An Update on the Laboratory Diagnosis of Rickettsia spp. Infection
por: Stewart, Adam G., et al.
Publicado: (2021)

Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders
por: Castaldo, Alice, et al.
Publicado: (2020)

Inherited Platelet Disorders: An Updated Overview
por: Palma-Barqueros, Verónica, et al.
Publicado: (2021)

Inherited forms of renal hypomagnesemia: an update
por: Knoers, Nine V. A. M.
Publicado: (2009)

Liver transplantation for pediatric inherited metabolic liver diseases
por: Vimalesvaran, Sunitha, et al.
Publicado: (2021)

Update of Guidelines for Laboratory Diagnosis of COVID-19 in Korea
por: Hong, Ki Ho, et al.
Publicado: (2022)

An Update on the Laboratory Diagnosis of Neuromyelitis Optica Spectrum Disorders
por: Jeyalatha, Mani Vimalin, et al.
Publicado: (2022)

Thrombotic Pathogenesis and Laboratory Diagnosis in Cancer Patients, An Update
por: Akinbo, David Bolaji, et al.
Publicado: (2023)

COVID-19: laboratory diagnosis for clinicians. An updating article
por: Vieira, Luisane Maria Falci, et al.
Publicado: (2020)

An "ex vivo model" contributing to the diagnosis and evaluation of new drugs in cystic fibrosis
por: Di Lullo, A.M., et al.
Publicado: (2017)

Genetic testing and diagnosis of inherited retinal diseases
por: Lam, Byron L., et al.
Publicado: (2021)

Updating the Genetic Landscape of Inherited Retinal Dystrophies
por: García Bohórquez, Belén, et al.
Publicado: (2021)

Neurodevelopmental Outcomes in Children With Inherited Liver Disease and Native Liver
por: Leung, Daniel H., et al.
Publicado: (2022)

Theratyping of the Rare CFTR Genotype A559T in Rectal Organoids and Nasal Cells Reveals a Relevant Response to Elexacaftor (VX-445) and Tezacaftor (VX-661) Combination
por: Kleinfelder, Karina, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_c1itt200l1n88ripjc3830jfar