Results 91 to 100 of about 17,427 (173)

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

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

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

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

Global Use of Casein Glycomacropeptide Protein Substitutes for Phenylketonuria (PKU): Health Professional Perspectives. [PDF]

Nutrients
Evans S, Singh R, Ahring K, Ashmore C, Daly A, Ford S, Gama MI, Giżewska M, Hill M, Ilgaz F, Jackson R, Newby C, Pinto A, Tosi M, Nas OY, Zuvadelli J, MacDonald A.   +16 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

Hormonal Crossroads in Inborn Errors of the Metabolism Impact of Puberty and Dietary Interventions on Metabolic Health. [PDF]

Metabolites
Lundqvist T, Stenlid R, Halldin M.
europepmc   +1 more source

Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives. [PDF]

Front Nutr
Saini AG, Gunasekaran PK, Prasad AN.
europepmc   +1 more source

Energy metabolism, adenosine, and glutamate signaling reprogramming by decanoic acid in Glut1 disorder syndrome. [PDF]

Epilepsia Open
Pain E, Kapatel Y, Singh PK, Jones KL, Selvakumaran J, Malerba A, Lucchesi W, Rutherford T, Gurnett CA, Walker MC, Williams RSB.   +10 more
europepmc   +1 more source