Cargando…

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks for hepatocellular carcinoma. An effective medical treatment with 2-[2-nitro-4-trifluoromethylbenzoyl]...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chinsky, Jeffrey M, Singh, Rani, Ficicioglu, Can, van Karnebeek, Clara D M, Grompe, Markus, Mitchell, Grant, Waisbren, Susan E, Gucsavas-Calikoglu, Muge, Wasserstein, Melissa P, Coakley, Katie, Scott, C Ronald
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2017
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729346/ https://www.ncbi.nlm.nih.gov/pubmed/28771246 http://dx.doi.org/10.1038/gim.2017.101

Ejemplares similares

Hepatorenal tyrosinemia
por: KITAGAWA, Teruo
Publicado: (2012)

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening
por: Priestley, Jessica R. C., et al.
Publicado: (2020)

Canadian Consensus Recommendations on the Management of MET-Altered NSCLC
por: Cheema, Parneet K., et al.
Publicado: (2021)

Syndrome of hereditary tyrosinemia in mink
por: Christensen, K, et al.
Publicado: (1978)

Addition of MPS-II to the Recommended Uniform Screening Panel in the United States
por: Millington, David S., et al.
Publicado: (2022)

Recommendations of the Canadian Consensus Group on the Management of Chronic Myeloid Leukemia
por: Laneuville, P., et al.
Publicado: (2006)

Comment on Pancreatitis in Type 1 Tyrosinemia
por: Rahmoune, Hakim, et al.
Publicado: (2017)

Tyrosinemia type III in an asymptomatic girl
por: Szymanska, Edyta, et al.
Publicado: (2015)

Recommendations of the 5th Canadian Consensus Conference on the diagnosis and treatment of dementia
por: Ismail, Zahinoor, et al.
Publicado: (2020)

Fluid biomarkers for diagnosing dementia: rationale and the Canadian Consensus on Diagnosis and Treatment of Dementia recommendations for Canadian physicians
por: Rosa-Neto, Pedro, et al.
Publicado: (2013)

Neonatal hyperinsulinism in transient and classical forms of tyrosinemia
por: Sethuram, Swathi, et al.
Publicado: (2021)

Treatment adherence in tyrosinemia type 1 patients
por: González-Lamuño, Domingo, et al.
Publicado: (2021)

Evolving role of MRI in optimizing the treatment of multiple sclerosis: Canadian Consensus recommendations
por: Arnold, Douglas L, et al.
Publicado: (2015)

Canadian Consensus Recommendations on the Management of Extensive-Stage Small-Cell Lung Cancer
por: Melosky, Barbara L., et al.
Publicado: (2023)

Canadian Consensus Recommendations on the Management of KRAS G12C-Mutated NSCLC
por: Cheema, Parneet K., et al.
Publicado: (2023)

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
por: McGovern, Margaret M., et al.
Publicado: (2017)

Hereditary tyrosinemia. Formation of succinylacetone-amino acid adducts
Publicado: (1985)

Type 1 tyrosinemia in Finland: a nationwide study
por: Äärelä, Linnea, et al.
Publicado: (2020)

Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia
por: Sarodaya, Neha, et al.
Publicado: (2020)

Adenine base editing in an adult mouse model of tyrosinemia
por: Song, Chun-Qing, et al.
Publicado: (2019)

Novel Mutation of Tyrosinemia in a Child With Hypophosphatemic Rickets
por: Dogra, Surabhi, et al.
Publicado: (2022)

Case report: ADHD and prognosis in tyrosinemia type 1
por: Barone, Helene, et al.
Publicado: (2023)

Recommendations for POCUS Curriculum in Canadian Undergraduate Medical Education: Consensus from the Inaugural Seguin Canadian POCUS Education Conference
por: Weill, Sacha, et al.
Publicado: (2023)

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma
por: Blackburn, Patrick R., et al.
Publicado: (2016)

Recommendations of the 4th Canadian Consensus Conference on the Diagnosis and Treatment of Dementia (CCCDTD4)
por: Gauthier, Serge, et al.
Publicado: (2012)

Primary hyperparathyroidism: review and recommendations on evaluation, diagnosis, and management. A Canadian and international consensus
por: Khan, A. A., et al.
Publicado: (2016)

CCCDTD5 recommendations on early non cognitive markers of dementia: A Canadian consensus
por: Montero‐Odasso, Manuel, et al.
Publicado: (2020)

Neurological Crises after Discontinuation of Nitisinone (NTBC) Treatment in Tyrosinemia
por: HONAR, Naser, et al.
Publicado: (2017)

Severe neurological crisis in adult patients with Tyrosinemia type 1
por: Dawson, Charlotte, et al.
Publicado: (2020)

Revisiting hereditary tyrosinemia Type 1—spectrum of radiological findings
por: Shaikh, Sana, et al.
Publicado: (2018)

Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I
por: Daly, Anne, et al.
Publicado: (2021)

Hereditary Tyrosinemia Type 1 in Jordan: A Retrospective Study
por: Megdadi, Noor A., et al.
Publicado: (2021)

In vivo quantitative photoacoustic evaluation of the liver and kidney pathology in tyrosinemia
por: Huang, Guojia, et al.
Publicado: (2022)

Knowledge translation: an overview and recommendations in relation to the Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia
por: Cook, Cheryl, et al.
Publicado: (2013)

Pharmacological recommendations for the symptomatic treatment of dementia: the Canadian Consensus Conference on the Diagnosis and Treatment of Dementia 2012
por: Herrmann, Nathan, et al.
Publicado: (2013)

Clinical and Para Clinical Findings in the Children with Tyrosinemia Referring for Liver Transplantation
por: Dehghani, Seyed Mohsen, et al.
Publicado: (2013)

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls
por: van Ginkel, Willem G., et al.
Publicado: (2016)

A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation
por: Najafi, Reza, et al.
Publicado: (2018)

TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW
por: Barroso, Fábio, et al.
Publicado: (2020)

Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain
por: Couce, María Luz, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_pmm44voir25fdkvf42tk2khp0l