Neurological implications of urea cycle disorders

Neurological implications of urea cycle disorders

Αποθηκεύτηκε σε:

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Andrea Gropman, Marshall Summar, James V. Leonard
Μορφή:	Revisão
Γλώσσα:	Αγγλικά
Έκδοση:	2007
Διαθέσιμο Online:	https://doi.org/10.1007/s10545-007-0709-5 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1007/s10545-007-0709-5
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Παρόμοια τεκμήρια

Neurological implications of urea cycle disorders
από: Gropman, A. L., κ.ά.
Έκδοση: (2007)

Brain imaging in urea cycle disorders
από: Andrea Gropman
Έκδοση: (2010)

Brain imaging in Urea cycle disorders
από: Gropman, Andrea
Έκδοση: (2010)

Improving Long Term Outcomes in Urea Cycle Disorders-Report from the Urea Cycle Disorders Consortium
από: Waisbren, Susan, κ.ά.
Έκδοση: (2016)

Improving long term outcomes in urea cycle disorders‐report from the Urea Cycle Disorders Consortium
από: Susan E. Waisbren, κ.ά.
Έκδοση: (2016)

A longitudinal study of urea cycle disorders
από: Mark L. Batshaw, κ.ά.
Έκδοση: (2014)

A longitudinal study of urea cycle disorders
από: Batshaw, Mark L., κ.ά.
Έκδοση: (2014)

The incidence of urea cycle disorders
από: Marshall Summar, κ.ά.
Έκδοση: (2013)

The incidence of urea cycle disorders
από: Summar, Marshall L., κ.ά.
Έκδοση: (2013)

On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases
από: Summar, Marshall L., κ.ά.
Έκδοση: (2014)

Multimodal imaging in urea cycle-related neurological disease – What can imaging after hyperammonemia teach us?
από: Sen, Kuntal, κ.ά.
Έκδοση: (2020)

Vaccines Are Not Associated With Metabolic Events in Children With Urea Cycle Disorders
από: Morgan, Thomas M., κ.ά.
Έκδοση: (2011)

Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with Urea Cycle Disorders
από: Mc Guire, Peter J., κ.ά.
Έκδοση: (2013)

Peptide tyrosine tyrosine levels are increased in patients with urea cycle disorders
από: Mitchell, Sabrina, κ.ά.
Έκδοση: (2012)

Advances in Urea cycle Neuroimaging: Proceedings from the 4th International symposium on Urea cycle disorders, Barcelona, Spain, September 2013
από: Pacheco-Colon, Ileana, κ.ά.
Έκδοση: (2014)

Review of Multi-Modal Imaging in Urea Cycle Disorders: The Old, the New, the Borrowed, and the Blue
από: Sen, Kuntal, κ.ά.
Έκδοση: (2021)

Fifteen years of urea cycle disorders brain research: Looking back, looking forward
από: Sen, Kuntal, κ.ά.
Έκδοση: (2021)

Urea cycle defects and hyperammonemia: effects on functional imaging
από: Gropman, Andrea L., κ.ά.
Έκδοση: (2012)

Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21‐year, multicentre study of acute hyperammonaemic episodes
από: Marshall Summar, κ.ά.
Έκδοση: (2008)

Diagnosis, Symptoms, Frequency and Mortality of 260 Patients with Urea Cycle Disorders from a 21-Year, Multicentre Study of Acute Hyperammonaemic Episodes
από: Summar, Marshall L., κ.ά.
Έκδοση: (2008)

Mitochondrial Mechanisms and Neurological Disorders
από: Gropman, Andrea L.
Έκδοση: (2013)

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium
από: Kölker, Stefan, κ.ά.
Έκδοση: (2015)

Quantitative RT-PCR Comparison of the Urea and Nitric Oxide Cycle Gene Transcripts in Adult Human Tissues
από: Neill, Meaghan Anne, κ.ά.
Έκδοση: (2009)

Cross-sectional multicenter study of patients with urea cycle disorders in the United States
από: Mendel Tuchman, κ.ά.
Έκδοση: (2008)

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
από: Roland Posset, κ.ά.
Έκδοση: (2019)

Impact of diagnosis and therapy on cognitive function in urea cycle disorders
από: Posset, Roland, κ.ά.
Έκδοση: (2019)

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders
από: Masoud Mokhtarani, κ.ά.
Έκδοση: (2012)

Cross-Sectional Multi-Center Study of Patients with Urea Cycle Disorders in the United States
από: Tuchman, Mendel, κ.ά.
Έκδοση: (2008)

Neurologic Outcome of Urea Cycle Disorder Liver Transplant Recipients May Be Predicted by Pre-Transplant Neurological Imaging
από: Bolton, Scott M., κ.ά.
Έκδοση: (2015)

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
από: Posset, Roland, κ.ά.
Έκδοση: (2020)

Urinary Phenylacetylglutamine as Dosing Biomarker for Patients with Urea Cycle Disorders
από: Mokhtarani, M, κ.ά.
Έκδοση: (2012)

In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle
από: Lee, Brendan, κ.ά.
Έκδοση: (2000)

Establishing a Consortium for the Study of Rare Diseases: The Urea Cycle Disorders Consortium
από: Seminara, Jennifer, κ.ά.
Έκδοση: (2010)

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders
από: Posset, Roland, κ.ά.
Έκδοση: (2020)

Prospective treatment of urea cycle disorders
από: Nancy E. Maestri, κ.ά.
Έκδοση: (1991)

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium
από: Jennifer Seminara, κ.ά.
Έκδοση: (2010)

Role of infection in urea cycle disorders
Έκδοση: (2014)

Hepatic Manifestations of Urea Cycle Disorders
από: Strong, Alanna, κ.ά.
Έκδοση: (2021)

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS
από: Lee, Brendan, κ.ά.
Έκδοση: (2014)

The Urea Cycle
από: Seashore, Margretta R.
Έκδοση: (1978)