Results 131 to 140 of about 17,115 (162)

A Case of Hyperammonemia Not Attributable to Liver Disease and Treated With IV Ammonia Scavengers. [PDF]

Cureus
Thomas J, George A, Mrittika S, Ahmad B, Wilcox G.   +4 more
europepmc   +1 more source

Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study. [PDF]

Orphanet J Rare Dis
Renous AS, Damaj L, Gorce M, Barth M, Bedu A, Sacaze E, Lamireau D, Laroche-Raynaud C, Pasquier L, Maakaroun-Vermesse Z, Tardieu M, Labarthe F.   +11 more
europepmc   +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

Enzyme immobilization in biodegradable polymers for biomedical applications [PDF]

, 2005
Azevedo, Helena S., Costa, S. A., Reis, R. L.   +2 more
core  

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

Management of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in Pregnancy. [PDF]

Metabolites
Shear MA, LaTray A, Chang IJ, Post A, Gallagher RC.   +4 more
europepmc   +1 more source

Sulfite oxidase deficiency causes persulfidation loss and hydrogen sulfide release. [PDF]

J Clin Invest
Fu CY, Kohl JB, Liebsch F, D'Andrea D, Ditrói T, Ogata S, Neuser F, Mai M, Mellis AT, Kouroussis E, Morita M, Gehling T, Santamaria-Araujo JA, Yeo SY, Endepols H, Křížková M, Kozich V, Krueger M, Hennermann JB, Barayeu U, Akaike T, Nagy P, Filipovic M, Schwarz G.   +23 more
europepmc   +1 more source

Neuroinflammation in CTLA-4 Haploinsufficiency: Case Report of a New Variant with Remarkable Response to Targeted Therapy. [PDF]

Int J Mol Sci
Baldini L, Del Vecchio L, Cerasi S, Fetta A, Moratti M, Bezzi A, Ferrari S, Di Dalmazi G, Rossi S, Toni F, Cordelli DM, Lanari M, Conti F.   +12 more
europepmc   +1 more source

Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries. [PDF]

J Inherit Metab Dis
Das AM, Ballhausen D, Haas D, Häberle J, Hagedorn T, Janson-Mutsaerts C, Janzen N, Sander J, Freisinger P, Karall D, Meyer U, Mönch E, Morlot S, Rosenbaum-Fabian S, Scholl-Bürgi S, Vom Dahl S, Weinhold N, Zeman J, Lange K.   +18 more
europepmc   +1 more source