Results 111 to 120 of about 22,929 (214)

Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis. [PDF]

Front Pediatr
Kononets V, Zharmakhanova G, Balmagambetova S, Syrlybayeva L, Berdesheva G, Zhussupova Z, Tautanova A, Kurmambayev Y.   +7 more
europepmc   +1 more source

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation [PDF]

, 2010
Ángela Sempere, Ángela Arias, Guillermo Farré, Judit García‐Villoria, Pilar Rodríguez‐Pombo, Lourdes R. Desviat, B. Merinero, Àngels García‐Cazorla, María Antònia Vilaseca, Antònia Ribes, Rafael Artuch, Jaume Campistol   +11 more
openalex   +1 more source

The Impact of Recombinant DNA on Inborn Errors of Metabolism

, 2000
Stephen Cederbaum
openalex   +1 more source

Evaluation of dietary management and monitoring practices in pharmaceutical clinical trials for inborn errors of metabolism

Nicole McWhorter, Tracy Lowe, Sara M. Sarasua, Christopher Farrell, Melanie B. Gillingham   +4 more
openalex   +1 more source

Steroidomics via Gas Chromatography-Mass Spectrometry (GC-MS): A Comprehensive Analytical Approach for the Detection of Inborn Errors of Metabolism. [PDF]

Life (Basel)
Chiara F, Allegra S, Liuzzi S, Puccinelli MP, Mengozzi G, De Francia S.   +5 more
europepmc   +1 more source

Tests for Suspected Inborn Errors of Metabolism [PDF]

, 1995
J Gordon Millichap
openalex   +1 more source

Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis

ESC Heart Failure
Violette Goetz, Bruno Lefort, Magalie Barth, Naïg Gueguen, Céline Bris, Emmanuelle Blanchard, Isabelle Benz‐de Bretagne, Hélène Blasco, Marine Tardieu, François Labarthe   +9 more
doaj   +1 more source

Correspondence on “First year result and insights from the Mexican Rare Disease Patient Registry from Cesar E. Calvo Aspiros and Claudia Gonzaga-Jauregui

Rare
Marcela Vela-Amieva, Cynthia Fernández-Lainez   +1 more
doaj   +1 more source

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat! [PDF]

J Inherit Metab Dis
den Hollander B, Hoytema van Konijnenburg EMM, Hewitson B, van der Meijden JC, Balfoort BM, Winter B, Müller AR, Wasserman WW, Ferreira CR, van Karnebeek CD.   +9 more
europepmc   +1 more source

What is the prevalence of cognitive dysfunction in pediatric patients with inborn errors of metabolism?

Tripdatabase
openalex   +1 more source