Results 101 to 110 of about 19,497 (183)

New Developments in Screening for Inborn Errors of Metabolism [PDF]

, 1971
I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
core   +1 more source

Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in Phenylketonuria

Pharmacological Research, 2023
Cognitive and psychiatric disorders are well documented across the lifetime of patients with inborn errors of metabolism (IEMs). Gut microbiota impacts behavior and cognitive functions through the gut-brain axis (GBA).
Sara Parolisi, Chiara Montanari, Elisa Borghi, Chiara Cazzorla, Juri Zuvadelli, Martina Tosi, Rita Barone, Giulia Bensi, Cristina Bonfanti, Carlo Dionisi Vici, Giacomo Biasucci, Alberto Burlina, Maria T. Carbone, Elvira Verduci   +13 more
doaj  

The prevalence of phenylketonuria among children with mental retardation in Kelantan [PDF]

, 2001
The prevalence of phenylketonuria (PKU) in Malaysia to date is not known since no study has been conducted to address the subject. The objectives of this study were to determine the prevalence of PKU among the mentally retarded children in Kelantan, to ...
Omar, Julia
core   +1 more source

Human medicines European public assessment report (EPAR): Ucedane, carglumic acid, Hyperammonemia,Amino Acid Metabolism, Inborn Errors, Date of authorisation: 23/06/2017, Revision: 5, Status: Authorised

Case Medical Research, 2019

semanticscholar   +1 more source

Genetic-Metabolic News [PDF]

, 1973
This is the first in a series of newsletters designed to inform the Virginia medical community of recent advances in the area of genetics and metabolism and to provide information regarding a variety of services that are available at the Medical College ...

core   +1 more source

Progeny, December 2003, Vol. 19, no. 4 [PDF]

, 2003
This newsletter from The Department of Public Health about perinatal health care and ...

core  

Biotin Status of Epileptics [PDF]

, 1985
Achuta Murthy P. N., Berlit P., Blass J. P., Bonjour J.-P., Bonjour J.-P., Caspers H., Frigg M., Ghatak N. R., Glaser G. H., Iivanainen M., Johnston D., Krause K.-H., Krause K.-H., Krause K.-H., Meinardi H., Mock D. M., Munoz-Garcia D., Noll F., Patel M. S., Paulsen E. P., Reynolds E. H., Sander J. E., Schmidt D., Scorn D., Selhorst J. B., Sweetman L., Sydenstricker V. P., Thoene J., Vivo D. C., Watanabe T., Wolf B., Woodbury D. M., Woodbury D. M., Woodbury D. M.   +33 more
core   +1 more source

Detection of Inborn Errors of Metabolism using Tandem Mass Spectrometry among High-risk Omani Patients

Oman Medical Journal, 2012
Objectives: This is a report on the types and patterns of inborn errors of metabolism (IEMs) of amino acids, organic acids and fatty acids oxidation detected by Tandem Mass Spectrometry for a period of 10 years (1998-2008) at Sultan Qaboos University ...
Sulaiman Al Riyami, Matar Al Maney, Surendra Nath Joshi, Riad Bayoumi   +3 more
doaj  

Effect of adrenocorticotropin or adenosin-3',5'-monophosphate on in vitro adrenal synthesis [PDF]

, 1964
Scriba, Peter Christian
core   +1 more source

New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride

Biologics: Targets & Therapy, 2010
Cary O HardingDepartments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, Oregon, USAAbstract: Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug ...
Cary O Harding
doaj