Results 121 to 130 of about 8,658 (196)

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

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

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile. [PDF]

JIMD Rep
Penicaud R, Ferron JB, Valette X, Bauduin P, Faisant M, Schiff M, Nguyen A, Fontaine F, Allouche S.   +8 more
europepmc   +1 more source

Breastfeeding in PKU and Other Amino Acid Metabolism Disorders-A Single Centre Experience. [PDF]

Nutrients
Kowalik A, Gudej-Rosa S, Nogalska M, Myszkowska-Ryciak J, Sykut-Cegielska J.   +4 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

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