Results 181 to 190 of about 167,642 (275)

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

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

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

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

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

International Survey on Phenylketonuria Newborn Screening. [PDF]

Int J Neonatal Screen
Trampuž D, Schielen PCJI, Zetterström RH, Scarpa M, Feillet F, Kožich V, Tangeraas T, Drole Torkar A, Mlinarič M, Perko D, Remec ŽI, Lampret BR, Battelino T, Isns Study Group On Pku, van Spronsen FJ, Bonham JR, Grošelj U.   +16 more
europepmc   +1 more source

Screening tests for inborn errors of metabolism associated with mental retardation [PDF]

, 1967
Langhus, Shirley Ann
core   +1 more source

Prediction of inherited metabolic disorders using tandem mass spectrometry data with the help of artificial neural networks. [PDF]

Turk J Med Sci
Soylu Üstkoyuncu P, Üstkoyuncu N.
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  

The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment. [PDF]

Orphanet J Rare Dis
Dallan A, Reynolds G, Canavese C, Carli D, Luca M, Gazzin A, Spada M, Porta F, Mussa A.   +8 more
europepmc   +1 more source