Results 81 to 90 of about 17,427 (173)

Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning.

Molecular Genetics and Metabolism, 2014
B. Therrell, M. Lloyd-Puryear, Kathryn M. Camp, Marie Mann   +3 more
semanticscholar   +1 more source

Prevalence and patterns of abnormal metabolic screening in pediatric acute encephalopathy: a PICU study from Egypt. [PDF]

Eur J Pediatr
Abdelrazic MI, Hemeda MS, Abd-Elaziz MA, Mahmoud AR, Abuelela IS.   +4 more
europepmc   +1 more source

Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate. [PDF]

Neuropediatrics
Brands MM, de Puyraimond C, Gospe SM, Schiff MM, Jaeger B, Koot BG, Raphael MF, Lubout CM, Soto B, Delanne J, Imbard A, Zempel J, Kraal KC, Scheenstra R, Clayton PT.   +14 more
europepmc   +1 more source

Die biochemiese basis van die gebruik van orotiensuur in die diagnose van aangebore metaboliese defekte

, 2005
Thesis (M.Sc. (Biochemistry))--North-West University, Potchefstroom Campus, 2005.Metabolic screening tests like the ferrichloride- and Benedict tests are commonly used as screening tests for inborn errors of the phenylalanine and carbohydrate metabolic ...
Heyneke, Odette
core  

Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening. [PDF]

Diagnostics (Basel)
Osman SA, Malki A, Al-Sulaiti H, Al-Dirbashi OY, Elrayess MA.   +4 more
europepmc   +1 more source

Ocular Manifestations of Inborn Errors of Carbohydrate and Lipid Metabolism (Bibliotheca Ophthalmologica No. 84) [PDF]

British Journal of Ophthalmology, 1976
openaire   +1 more source

Impact of a Transition Clinic on Long-Term Care and Nutritional Management in Patients with Inborn Errors of Metabolism. [PDF]

Nutrients
Díaz-López EJ, Fernández-Pombo A, Hermida-Ameijeiras Á, Gómez-Vázquez E, Rodríguez-Carnero G, Jiménez-López N, Villar-Taibo R, Cantón-Blanco A, Muñoz-Leira V, Sánchez-Pintos P, Couce ML, Olmos MAM.   +11 more
europepmc   +1 more source

Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience. [PDF]

J Clin Med
Deudero A, Lasheras E, Ventura R, Montserrat-Carbonell C, Milisenda JC, Juliá-Palacios N, Matas A, Forga-Visa MT, López-Galera RM, García-Villoria J, Placeres M, Pané A, Garrabou G, Ribes A, Cardellach F, Moreno-Lozano PJ, Garcia-Cazorla À, Campistol J, Iem-Sjd-Hcb Consortia.   +18 more
europepmc   +1 more source

Pyruvate Dehydrogenase Complex Deficiency: A Review of Treatments and Case Series. [PDF]

Int J Mol Sci
Betesh-Abay B, Shany E, Staretz-Chacham O, Shelef I, Azab AN.   +4 more
europepmc   +1 more source

An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies. [PDF]

Front Cardiovasc Med
Montanari C, Tagi VM, Tosi M, Stucchi E, Pisano EM, Raso I, Fini G, Fiori L, Mannarino S, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source