Results 141 to 150 of about 17,668 (251)

Dietary Inflammatory Index and Nutritional Status in Children with Inborn Errors of Metabolism on Protein-Restricted Diets. [PDF]

Nutrients
Aktaş E, Çiçek B, Okur I, İnci A, Tümer L.   +4 more
europepmc   +1 more source

Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran. [PDF]

Orphanet J Rare Dis
Nasri M, Mahdieh N, Abbasi F, Mohsenipour R, Abdolahpour S.   +4 more
europepmc   +1 more source

Excretion of organic acids associated with biotin deficiency in chronic anticonvulsant therapy [PDF]

, 1984
Berlit, Peter, Bonjour, Jean-Pierre, Kochen, W., Krause, Klaus-Henning   +3 more
core  

Untargeted Metabolomic Study for Urinary Characterization of Adult Patients with Phenylketonuria. [PDF]

Int J Mol Sci
Gonzalez-Rodriguez A, Barrau-Martinez B, Pané A, López Galera RM, Tobias E, Montserrat-Carbonell C, Guitart-Mampel M, Jáuregui O, Roca-Vives R, Garcia-Villoria J, Milisenda JC, Matas-Garcia A, Forga Visa MT, Moreno Lozano PJ, Garrabou G, Urpi-Sarda M, Llorach R, Consortium PKU.cat.   +17 more
europepmc   +1 more source

Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants. [PDF]

BMC Med Genomics
Hajati R, Hashemian F, Salehpour S, Sayad A.   +3 more
europepmc   +1 more source

Severe Cow's Milk Allergy Presenting With Life-Threatening Metabolic Acidosis in an Extremely Preterm Infant: A Case Report. [PDF]

Cureus
Al Shafouri N, Khalid M, Al Muqarshi A, Al Hatmi J.   +3 more
europepmc   +1 more source

Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies. [PDF]

J Clin Med
Shakerdi AL, Nerney D, Molloy EJ, Knerr I.   +3 more
europepmc   +1 more source

Clinical evaluation of determinations of free and serum protein bound triiodthyronine (dextran gel filtration) [PDF]

, 1965
Heinze, H. G., Landgraf, R., Schwarz, K., Scriba, Peter Christian   +3 more
core  

Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition-Related Hyperammonemia. [PDF]

JIMD Rep
Crenshaw MM, D'Annibale OM, Martucci V, Gracie S, Kochhar A, Stansauk J, Larson A, Baker P, Peck C, Wood T, El-Gharbawy A, McCandless S, LoPiccolo MK.   +12 more
europepmc   +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