Results 81 to 90 of about 3,357 (148)

Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype. [PDF]

Mol Genet Metab Rep
Demirbas D, Waisbren SE, Bodamer O, Hung CY, Rajabi F, Berry G, Levy HL.   +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

Experimental Animal Models of Phenylketonuria: Pros and Cons. [PDF]

Int J Mol Sci
Bobrova NA, Lyubimova DI, Mishina DM, Lobanova VS, Valieva SI, Mityaeva ON, Feoktistova SG, Volchkov PY.   +7 more
europepmc   +1 more source

No indication of histological changes in embryonic somatosensory cortex development upon maternal aspartame consumption in mice. [PDF]

NPJ Sci Food
Andriichuk L, Namba T.
europepmc   +1 more source

Pilot Newborn Screening for Vitamin B12 Deficiency in the Czech Republic: Results and Detailed Studies on Identified Babies and Their Mothers. [PDF]

Int J Neonatal Screen
Stanovský S, Bártl J, Chrastina P, Kožich V, Krijt J, Nelicová K, Sokolová J, Nguyen TA, Plavka R, Pelinková K, Springer D, Berková K, Straňák Z, Janota J, Tichá K, Zach J, Honzík T.   +16 more
europepmc   +1 more source

Defective Neural Stem and Progenitor Cell Proliferation in Neurodevelopmental Disorders. [PDF]

J Dev Biol
Shigenaka A, Nitta E, Nakagawa T, Nakagawa M, Hosoi T.   +4 more
europepmc   +1 more source

Cell encapsulation as a potential nondietary therapy for maternal phenylketonuria. [PDF]

Am J Obstet Gynecol, 2009
Santillan DA, Santillan MK, Hunter SK.
europepmc   +1 more source

Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024. [PDF]

Front Pediatr
Ou MM, Sun CT, Zhang L, Kong LL, Zhang LX, Zheng J, Zhang PY, Wang YM, Lin XF, Yang X.   +9 more
europepmc   +1 more source

Positive Impact of Breastfeeding on Nutritional Status and Metabolic Control in Infants with PKU: A Retrospective Study. [PDF]

Nutrients
López-Mejía L, Guillén-López S, Vela-Amieva M, Fernández-Lainez C, Castro-Monroy L.   +4 more
europepmc   +1 more source

The Light and the Dark Side of Maternal PKU: Single-Centre Experience of Dietary Management and Emergency Treatment Protocol of Unplanned Pregnancies. [PDF]

Nutrients
Gautiero C, Scala I, Esposito G, Coppola MR, Cacciapuoti N, Fisco M, Ruoppolo M, Strisciuglio P, Parenti G, Guida B.   +9 more
europepmc   +1 more source