Results 91 to 100 of about 17,115 (162)

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

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

A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback. [PDF]

J Inherit Metab Dis
Saudubray JM, Schiff M.
europepmc   +1 more source

The influence of menstrual cycle on metabolic control and diet in patients with phenylketonuria. [PDF]

Orphanet J Rare Dis
Horka L, Landolt K, Erlic Z, Rimann N, Cremonesi A, Hochuli M, Beuschlein F.   +6 more
europepmc   +1 more source

Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management. [PDF]

Orphanet J Rare Dis
Harings T, Bertsche T, Thiele AG, Kiess W, Bertsche A, Beblo S, Neininger MP.   +6 more
europepmc   +1 more source

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency::a systematic review [PDF]

, 2019
Clarke, Aileen, Connock, Martin, Fraser, Hannah, Geppert, Julia, Johnson, Rebecca, Johnson, Samantha, Stinton, Christopher, Taylor-Phillips, Sian   +7 more
core   +2 more sources

Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism. [PDF]

Mol Genet Metab Rep
Coody TK, De Biase I, Porter JM, Pasquali M, Shayota BJ.   +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  

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation. [PDF]

Int J Neonatal Screen
Vasco A, Berardo C, Lucchi S, Cappelletti L, Tamburello G, Fazzone S, Mauri A, Fiumani F, Postorivo D, Alberti L, Perrone Donnorso M, Gasperini S, Furlan F, Fiori L, Carelli S, Saielli LA, Montrasio C, Cereda C.   +17 more
europepmc   +1 more source

Small Molecules as Alternate Substrates for 3-Methylglutaconylation. [PDF]

JIMD Rep
Jennings EA, Romenskaia I, Ryan RO.
europepmc   +1 more source