Results 131 to 140 of about 3,221 (198)

Characterization of C5 Acylcarnitines and Related Dicarboxylic Acylcarnitines in Saudi Newborns: Screening, Confirmation, and Cutoff Variation. [PDF]

Int J Neonatal Screen
Bokhari HA, Mujamammi AH, Bader HA, Alamri HJ, Alharbi KK.   +4 more
europepmc   +1 more source

Extended Lombardy's Neonatal Screening Dataset. [PDF]

Sci Data
Lopiano G, Alberti L, Cereda C, Cabitza F.   +3 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

Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease. [PDF]

Metabolites
Erdal R, Birsoy K, Unlu G.
europepmc   +1 more source

Dopamine Transporter Deficiency Syndrome: A Rare Case of Infantile-Onset Dystonia-Parkinsonism. [PDF]

J Mov Disord
Madduluri B, Garapati D, Yareeda S.
europepmc   +1 more source

Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran. [PDF]

Orphanet J Rare Dis
Salarian L, Ilkhanipoor H, Amirhakimi A, Afshar Z, Nahid S, Moradi Ardekani F, Rahimi N, Yazdani N, Nikravesh A, Beyzaei Z, Moravej H.   +10 more
europepmc   +1 more source

Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China. [PDF]

Front Genet
Zhang H, Tian H, Dai W, Zhang L, Guo G, Ding G.   +5 more
europepmc   +1 more source

A 25-Year Retrospective on Bavaria's Newborn Screening Programme: Achievements, Challenges and Long-Term Follow-Up. [PDF]

Int J Neonatal Screen
Nennstiel U, Brockow I, Odenwald B, Marzi C, Hanauer M, Maier E, Röschinger W, Fingerhut R, Liebl B.   +8 more
europepmc   +1 more source

Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning. [PDF]

BMC Med Genomics
Xie Y, Peng G, Tikhonova I, Enns G, Zhao H, Cowan T, Scharfe C.   +6 more
europepmc   +1 more source

Expanded Newborn Screening in Italy: The First Report of Lombardy Region. [PDF]

Int J Neonatal Screen
Berardo C, Vasco A, Mauri A, Lucchi S, Cappelletti L, Saielli L, Rizzetto M, Biganzoli D, Montrasio C, Postorivo D, Pratiffi E, Meta A, Carelli S, Amorosi A, Paci S, Cefalo G, Furlan F, Menni F, Gasperini S, Crescitelli V, Banderali G, Zuccotti G, Alberti L, Cereda C.   +23 more
europepmc   +1 more source