Cargando…

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease

Maple syrup urine disease (MSUD) is an inherited disorder of branched-chain amino acid metabolism presenting with life-threatening cerebral oedema and dysmyelination in affected individuals. Treatment requires life-long dietary restriction and monitoring of branched-chain amino acids to avoid brain...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zinnanti, William J., Lazovic, Jelena, Griffin, Kathleen, Skvorak, Kristen J., Paul, Harbhajan S., Homanics, Gregg E., Bewley, Maria C., Cheng, Keith C., LaNoue, Kathryn F., Flanagan, John M.
Formato:	Texto
Lenguaje:	English
Publicado:	Oxford University Press 2009
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668944/ https://www.ncbi.nlm.nih.gov/pubmed/19293241 http://dx.doi.org/10.1093/brain/awp024

Ejemplares similares

Production and characterization of murine models of classic and intermediate maple syrup urine disease
por: Homanics, Gregg E, et al.
Publicado: (2006)

Maple syrup urine disease: mechanisms and management
por: Blackburn, Patrick R, et al.
Publicado: (2017)

Neuroradiological findings in maple syrup urine disease
por: Indiran, Venkatraman, et al.
Publicado: (2013)

Intramyelinic edema in maple syrup urine disease
por: Cornelius, Leema Pauline, et al.
Publicado: (2014)

New zebrafish model for maple syrup urine disease
Publicado: (2012)

Maple Syrup Urine Disease and Oculocutaneous Albinism in Twins
por: Nagabushana, Divya, et al.
Publicado: (2014)

Pregnancy in an adolescent with maple syrup urine disease: Case report
por: Abadingo, Michelle E., et al.
Publicado: (2021)

Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease
por: Atwal, P.S., et al.
Publicado: (2015)

Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease
por: Uaariyapanichkul, Jaraspong, et al.
Publicado: (2017)

Imaging Findings in Maple Syrup Urine Disease: A Case Report
por: Kathait, Anjaneya S., et al.
Publicado: (2018)

Nutrient management in the intrapartum period in maternal maple syrup urine disease
por: Takano, Chika, et al.
Publicado: (2021)

Treatment of COVID-19 in a Patient With Maple Syrup Urine Disease
por: Morton, Kara F, et al.
Publicado: (2022)

Maple syrup urine disease decompensation misdiagnosed as a psychotic event
por: Higashimoto, Tomoyasu, et al.
Publicado: (2022)

Neonatal maple syrup urine disease case report and literature review
por: Liu, Qiao, et al.
Publicado: (2022)

Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination
por: Al Shidhani, Azza, et al.
Publicado: (2023)

Maple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures
por: K K, Harshyenee, et al.
Publicado: (2023)

Maple syrup urine disease: new insights from a zebrafish model
por: Roberts, Nathan B.
Publicado: (2012)

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
por: Margutti, Ana Vitoria Barban, et al.
Publicado: (2020)

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation
por: Guilder, Laura, et al.
Publicado: (2021)

Molecular basis of various forms of maple syrup urine disease in Chilean patients
por: Campanholi, Diana Ruffato Resende, et al.
Publicado: (2021)

Diagnosis of an intermediate case of maple syrup urine disease: A case report
por: Lin, Yun-Ting, et al.
Publicado: (2023)

Identification of gene mutations in six Chinese patients with maple syrup urine disease
por: Li, Lulu, et al.
Publicado: (2023)

Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders
por: Xu, Jing, et al.
Publicado: (2020)

Successful pregnancy in maple syrup urine disease: a case report and review of the literature
por: Grünert, Sarah Catharina, et al.
Publicado: (2018)

Case report: maple syrup urine disease with a novel DBT gene mutation
por: Feng, Wei, et al.
Publicado: (2019)

Oral health status of children and young adults with maple syrup urine disease in Turkey
por: Ballikaya, Elif, et al.
Publicado: (2021)

Nutritional and Functional Potential of Carob Syrup Versus Date and Maple Syrups
por: Toufeili, Imad, et al.
Publicado: (2022)

Two consecutive partial liver transplants in a patient with Classic Maple Syrup Urine Disease()()
por: Chin, H.L., et al.
Publicado: (2015)

The Physicochemical Characterization and In Vitro Digestibility of Maple Sugar Sand and Downgraded Maple Syrups
por: Decabooter, Gautier, et al.
Publicado: (2023)

Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry
por: Kenneson, Aileen, et al.
Publicado: (2018)

Paroxysmal spasticity of lower extremities as the initial symptom in two siblings with maple syrup urine disease
por: Liu, Yi-Dan, et al.
Publicado: (2019)

Perioperative management of living donor related liver transplantation in an infant for Maple syrup urine disease
por: Pal, Atish, et al.
Publicado: (2018)

Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice
por: Pontoizeau, Clément, et al.
Publicado: (2022)

Knowledge-Based Dietary Intake Recommendations of Nutrients for Pediatric Patients with Maple Syrup Urine Disease
por: Alrige, Mayda, et al.
Publicado: (2023)

Imaging in Classic Form of Maple Syrup Urine Disease: A Rare Metabolic Central Nervous System
por: Jain, Aditi, et al.
Publicado: (2013)

Brain–blood amino acid correlates following protein restriction in murine maple syrup urine disease
por: Vogel, Kara R, et al.
Publicado: (2014)

Successful domino liver transplantation in maple syrup urine disease using a related living donor
por: Feier, F.H., et al.
Publicado: (2014)

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data
por: Chapman, Kimberly A., et al.
Publicado: (2018)

Maple Syrup Urine Disease Masquerading as Urea Cycle Disorder: A Tale of Two Clinical Mimics
por: Rauf, Shahzad, et al.
Publicado: (2020)

Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria
por: Raghu, Vikram K., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_iv60fj8uevhndunaqm0b0ftql7