Results 81 to 90 of about 32,945 (208)

Liver transplantation for inborn errors of liver metabolism.

, 2006
Liver transplantation brings complete recovery from end-stage liver disease, and full correction of liver based inborn errors of ...
Efienne M. Sokal, Sokal, Etienne
core   +1 more source

EPILEPSY IN INBORN ERRORS OF METABOLISM

, 2016
Epilepsy is a frequent and sometimes leading symptom in inborn errors of metabolism, especially in neonatal or infantile ones. Early myoclonic encephalopathy and myoclonus as a seizure type are the prototypes of epilepsy in inherited metabolic diseases ...
E. D. Belousova
core   +1 more source

Inborn Errors of Human JAKs and STATs

, 2012
Inborn errors of the genes encoding two of the four human JAKs (JAK3 and TYK2) and three of the six human STATs (STAT1, STAT3, and STAT5B) have been described.
Casanova, Jean-Laurent, Notarangelo, Luigi D., Holland, Steven M.   +2 more
core   +1 more source

Isobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease?

Orphanet Journal of Rare Diseases
Background Isobutyryl-coenzyme A dehydrogenase deficiency (IBDD) is a rare inborn error of valine metabolism caused by variants in the ACAD8 gene. Since its initial description in 1998, a wide range of clinical features has been reported, but the disease
María Daniela Santacruz Reyes, Jörn Oliver Sass   +1 more
doaj   +1 more source

Inborn errors of metabolism

, 2001
Inborn errors of metabolism (IEM) are a group of disorders that causes abnormal function of biochemical pathways. Archibald Garrod des-cribed the first inborn error of metabolism in 1893. He described alkaptonuria in a patient whose urine turned black on
Tuan Norhafizah binti Tuan Zakaria
core  

Carnitine Inborn Errors of Metabolism

, 2019
Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous synthesis accounts for around 25%.
Majid Alfadhel, Mohammed Almannai, Ayman W. El-Hattab   +2 more
core   +1 more source

Incidence and geographic distribution of biliary atresia in children under 1 year of age in Colombia during the period 2018-2021

Revista de la Facultad de Medicina
Introduction: Biliary atresia (BA) is the most common cause of obstructive jaundice in the first months of life. If not treated promptly, BA rapidly progresses to biliary cirrhosis and eventually leads to early death.
Angie Vanessa Vergara-Espitia, John Jairo Zuleta-Tobón, Patricia Ruiz-Navas, Margarita María Suarez-Galvis   +3 more
doaj   +1 more source

Inborn Errors of Immunity in Apoptosis

Frontiers in Bioscience-Landmark
Inborn errors of immunity (IEIs) are a group of more than 485 disorders that impair immune development and function with variable reported incidence, severity, and clinical phenotypes. A subset of IEIs blend increased susceptibility to infection, autoimmunity, and malignancy and are known collectively as primary immune regulatory disorders (PIRDs ...
Melissa Gans, Gary I. Kleiner, Iris H. Kim, Matthew Wyke, Alana Xavier de Almeida, Travis Satnarine, Nadia Makkoukdji   +6 more
openaire   +3 more sources

Retraction notice to “Case-control study about the acceptance of Pegvaliase in Phenylketonuria” Molecular Genetics and Metabolism Reports 22 (2020) 100557.

Molecular Genetics and Metabolism Reports, 2021
Johannes Krämer
doaj   +1 more source

Evaluation of Immunization Rates and Safety Among Children With Inborn Errors of Metabolism

, 2011
BACKGROUND: Children with inherited metabolic disorders are a potential high-risk group for vaccine-preventable diseases, yet information regarding immunization rates and vaccine safety within this population is ...
Stuart K. Shapira, Barbara Slade, Marshall Summar, Laurie Aukes, Nicola P. Klein, Bruce Fireman, Roger Baxter, Janelle Lee   +7 more
core   +1 more source