Results 131 to 140 of about 19,497 (183)

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

Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss. [PDF]

Int J Neonatal Screen
Morishima S, Shimada Y, Watanabe Y, Ihara K.   +3 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

A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatography. [PDF]

Mol Genet Metab Rep
Wilson KA, Zhou Y, Cunningham G, Chapman K, Summar M, Regier D.   +5 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  

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

Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of <i>SERAC1</i>. [PDF]

JIMD Rep
Marchante Pita R, Amaral R, Vilarinho L, Diogo L, Gonçalves I, Nobre S.   +5 more
europepmc   +1 more source

YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria. [PDF]

J Inherit Metab Dis
Demetriadou A, Grafakou O, Georgiou T, Burska D, Malekkou A, Krizova J, Paramera E, Mavrikiou G, Dionysiou M, Theodosiou A, Sismani C, Anastasiadou V, Ioannou I, Papakonstantinou E, Hansikova H, Drousiotou A, Petrou PP.   +16 more
europepmc   +1 more source

Plasma Metabolic Outliers Identified in Estonian Human Knockouts. [PDF]

Metabolites
Yu K, Estonian Biobank Research Team, Estrada K, Esko T, Kals M, Nikopensius T, Kronberg J, Võsa U, Wuster A, Bomba L.   +9 more
europepmc   +1 more source

Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism. [PDF]

J Inherit Metab Dis
Safarikia S, Cirelli R, Spagnoletti G, Martinelli D, Bravetti G, Francalanci P, D'Alessandro A, Di Felice G, Maistri M, Baldissone E, Fratti AM, Simeoli R, Sacchetti E, Cairoli S, Rizzo C, Pariante R, Vacca M, Cappoli A, Albano C, Pietrobattista A, Spada M, Vici CD.   +21 more
europepmc   +1 more source