Results 81 to 90 of about 3,704 (134)

Reshaping the Treatment Landscape of a Galactose Metabolism Disorder. [PDF]

J Inherit Metab Dis
Rubio-Gozalbo ME, Naomi Vos E, Rivera I, Lai K, Berry GT.   +4 more
europepmc   +1 more source

Benchmarking genetic birth prevalence estimates against newborn screening data. [PDF]

Am J Hum Genet
Sierant MC, Knoblauch N, Witt E, Gaffney D, Pulit SL, Wuster A.   +5 more
europepmc   +1 more source

Myo-Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI Study. [PDF]

J Inherit Metab Dis
Niess E, Niess F, Bogner W, Svatkova A, Herle M, Laußner L, Hingerl L, Strasser B, Pichler M, Konstantopoulou V, Hufgard-Leitner M, Buchinger D, Milenkovic I, Kautzky-Willer A, Stulnig T, Scherer T.   +15 more
europepmc   +1 more source

Cytosolic UDP-Gal biosynthetic machinery is required for dimerization of SLC35A2 in the Golgi membrane and its interaction with B4GalT1. [PDF]

Front Mol Biosci
Wiertelak W, Pavlovskyi A, Olczak M, Maszczak-Seneczko D.   +3 more
europepmc   +1 more source

Identification of a novel β-1,4-galactosyltransferase from <i>Haemophilus parainfluenzae</i> for efficient biosynthesis of lacto-<i>N</i>-neotetraose in <i>Escherichia coli</i>. [PDF]

Synth Syst Biotechnol
Liu D, Ying C, Ping Y, Liang S, Yan Q, Jiang Z.   +5 more
europepmc   +1 more source

C5 inhibition restores B cell homeostasis and humoral immunity in CHAPLE disease patients. [PDF]

J Hum Immun
Tahiat A, Belbouab R, Yagoubi A, Buta Panov S, Cuollo L, Djenouhat K, Bogunovic D.   +6 more
europepmc   +1 more source

Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023. [PDF]

Int J Neonatal Screen
Sörensen L, Asin-Cayuela J, Barbaro M, Bruhn H, Engvall M, Lesko N, Naess K, Oscarson M, Shen Y, Ueberschär M, Wredenberg A, Sterky FH, Wedell A, Zetterström RH.   +13 more
europepmc   +1 more source

The role of <i>Astragalus membranaceus</i> and its derivatives in digestive system diseases: reconstruction of immune tolerance. [PDF]

Front Immunol
Chang X, Zhang X, Guo H, Yao X, Zhang J, Zhuang K, Li L.   +6 more
europepmc   +1 more source

Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions. [PDF]

Int J Neonatal Screen
Monostori P, Szatmári I, Baráth Á, Bókay J, Csenki M, Galla Z, Gellén B, Grecsó N, Gyüre E, Halász Z, Hegedűs K, Kincs J, Kiss E, Kósa M, Lénárt I, Pálmay A, Rácz G, Szabó H, Szabó L, Tőkési V, Xue A, Zsidegh P, Szabó AJ, Bereczki C.   +23 more
europepmc   +1 more source

The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children. [PDF]

Diagnostics (Basel)
Lipiński P, Doroba A.
europepmc   +1 more source