Results 41 to 50 of about 3,465 (127)

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

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

British Journal of Ophthalmology, 1976
openaire   +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

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

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

Incidental maternal glutaric aciduria type I detection through newborn screening: A case report. [PDF]

Mol Genet Metab Rep
Grillet PE, Marelli C, Mondésert E, Francois-Heude MC, Roubertie A, Sabourdy F, Cristol JP, Acquaviva C, Badiou S.   +8 more
europepmc   +1 more source

Glutamatergic Neurotransmission Disruption as a Pathomechanism of Brain Damage in Disorders of Amino Acid and Organic Acid Metabolism: Insights from Animal and Cellular Studies. [PDF]

Neurochem Res
Marcuzzo MB, Benati MPDV, Souza DO, Wajner M, Leipnitz G.   +4 more
europepmc   +1 more source

Perioperative management of pediatric patients with inborn errors of metabolism during liver transplantation. [PDF]

World J Transplant
Paulin S, Rajakumar A, Menon J, Shanmugam N, Rela M.   +4 more
europepmc   +1 more source

Comprehensive approach to primary immunodeficiencies in adulthood: recognition and diagnosis. [PDF]

Rev Esp Quimioter
Muñoz-Echeverria L, Sánchez-Cano JG, Losa-García JE.   +2 more
europepmc   +1 more source

Mass Spectrometry-Based Metabolomics in Pediatric Health and Disease. [PDF]

Metabolites
Sahu D, Matusa AM, DiBattista A, Urquhart BL, Fraser DD.   +4 more
europepmc   +1 more source