Results 71 to 80 of about 148,113 (146)

Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials. [PDF]

Neurotherapeutics
D'Silva A, Barnes J, Djafar J, Bhattacharya K, Yan J, Mohammad S, Bandodkar S, Johnson A, Tchan M, Miteff C, Elvidge KL, Dale RC, Farrar M.   +12 more
europepmc   +1 more source

Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young Adult. [PDF]

AACE Clin Case Rep, 2023
Subbu K, Hildebrandt C, Caraccio D.
europepmc   +1 more source

Classic ketogenic diet-induced ketoacidosis in the treatment of pyruvate dehydrogenase deficiency: a case report and literature review. [PDF]

BMC Pediatr
Li R, Ma M, Chen W, Qiu Z.
europepmc   +1 more source

A pragmatic approach to the diagnosis of inborn errors of metabolism in developing countries. [PDF]

Afr J Lab Med, 2023
Anetor JI, Orimadegun BE, Anetor GO.
europepmc   +1 more source

Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management. [PDF]

Int J Mol Sci
Vela-Amieva M, Alcántara-Ortigoza MA, González-Del Angel A, Fernández-Hernández L, Reyna-Fabián ME, Estandía-Ortega B, Guillén-López S, López-Mejía L, Belmont-Martínez L, Carrillo-Nieto RI, Ibarra-González I, Ryu SW, Lee H, Fernández-Lainez C, Rare Diseases Mexican Effort Group (RaDiMEG).   +14 more
europepmc   +1 more source

The Effects of Dietary Protein and Polysaccharide Fortification on Disease. [PDF]

Nutrients, 2023
Luo J, Luo Y.
europepmc   +1 more source

Inherited metabolic disorders in Cyprus. [PDF]

Mol Genet Metab Rep
Georgiou T, Petrou PP, Malekkou A, Ioannou I, Gavatha M, Skordis N, Nicolaidou P, Savvidou I, Athanasiou E, Ourani S, Papamichael E, Vogazianos M, Dionysiou M, Mavrikiou G, Grafakou O, Tanteles GA, Anastasiadou V, Drousiotou A.   +17 more
europepmc   +1 more source

Acute Metabolic Decompensation of Isovaleric Acidemia Presenting as Persistent Metabolic Acidosis in a Middle-Aged Man: A Case Report. [PDF]

Cureus
Ravikumar A, Abdelgani A, Pawlak T, Raphael R, Abdalla A.   +4 more
europepmc   +1 more source

Urea cycle defects in adulthood: clinical presentation, diagnosis and treatment in genetically encoded hepatic metabolic disorders with a potential for encephalopathy. [PDF]

Metab Brain Dis
Das AM.
europepmc   +1 more source

Late-onset Very long-chain acyl-CoA dehydrogenase deficiency diagnosis complicated by fulminant myocarditis in adult patient. [PDF]

J Intensive Med
Gérard M, Douillard C, Poissy J, Marzouk M, Vinsonneau C.   +4 more
europepmc   +1 more source