Results 111 to 120 of about 8,658 (196)

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

Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs. [PDF]

Metabolites
Tommolini ML, Cufaro MC, Valentinuzzi S, Cicalini I, Zucchelli M, Frisco A, Simonetti S, Perrone Donnorso M, Moccia S, Bucci I, Aricò M, De Laurenzi V, Federici L, Pieragostino D, Rossi C.   +14 more
europepmc   +1 more source

Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case. [PDF]

Case Reports Immunol
Musabak U, Erdogan T, Akcay MS, Ceylaner S.   +3 more
europepmc   +1 more source

Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center. [PDF]

Mol Genet Metab Rep
Vela-Amieva M, Fernández-Lainez C, Guillén-López S, López-Mejía L, Alcántara-Ortigoza MA, González Del Angel A, Fernández-Hernández L, Reyna-Fabián ME, Estandía-Ortega B, Ibarra-González I, Ryu SW, Lee H, Rare Diseases Mexican Effort Group (RaDiMEG).   +12 more
europepmc   +1 more source

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

Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report. [PDF]

J Med Case Rep
Krug A, Perlot P, Empain A, Vilain C, Monier A, Tazi K, De Laet C.   +6 more
europepmc   +1 more source

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

Development of an automated quality control and assay performance management system for biochemical genetics laboratory. [PDF]

Mol Genet Metab Rep
Tanpaiboon P, Salazar D, Pan M, Xu L, Sharma R.   +4 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 Establishment of Expanded Newborn Screening in Rural Areas of a Developing Country: A Model from Health Regions 7 and 8 in Thailand. [PDF]

Int J Neonatal Screen
Wichajarn K, Sawatjui N, Prasongdee P, Panklin A, Sornkayasit K, Chungkanchana N, Tessiri S, Wintachai P, Dechyotin S, Pasomboon C, Ratanapontee J, Thanakitsuwan S, Rattanathongkom A.   +12 more
europepmc   +1 more source