Results 91 to 100 of about 1,727,355 (121)

Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation. [PDF]

Int J Mol Sci
Lotnik EE, Chukhrova AL, Ryadninskaya NV, Kadnikova VA, Zakharova EY, Baydakova GV, Osadchii AR, Anisimova IV, Voronin SV, Kutsev SI, Savostyanov KV, Bilalov FS, Koroteev AL, Trofimov DY, Bairova TA, Seitova GN, Mordanov SV, Matulevich SA, Golikhina TA, Nikolaeva EB, Polyakov AV, Shchagina OA.   +21 more
europepmc   +1 more source

Current state of the treatment landscape of phenylketonuria. [PDF]

Orphanet J Rare Dis
Nulmans I, Lequeue S, Desmet L, Neuckermans J, De Kock J.   +4 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

Children's health: insights from space medicine on metabolic health. [PDF]

NPJ Microgravity
Ferraro S, Ghani F, Tosi M, Dave A, Verduci E, Mauri A, Zuccotti G, Mason CE, Marcovina S.   +8 more
europepmc   +1 more source

Advancing Nutritional Science: Contemporary Perspectives on Diet's Role in Metabolic Health and Disease Prevention. [PDF]

Nutrients
Elío I.
europepmc   +1 more source

Progress, clinical application and challenges of non-invasive prenatal testing for monogenic diseases. [PDF]

Front Pediatr
Wang C, Hou D, Wang G, Wu X, Zhou Z, Yang L, Liu Y, Wang X.   +7 more
europepmc   +1 more source

Factors associated with psycho-behavioral problems among 100 children with phenylketonuria aged 6-18 years. [PDF]

Orphanet J Rare Dis
Xue M, Shen M, Wang S, Pang B, Zhang X, Chen K, Zhang Z, Niu W.   +7 more
europepmc   +1 more source

Laboratory Monitoring of Nutritional Deficiencies in Children Following Restrictive Diets: A Narrative Review and Risk-Based Considerations. [PDF]

Children (Basel)
Dobrijević D, Pastor K, Stojšić M.
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

Evaluation of the resilience status of children with inherited metabolic disorders and the levels of their mothers' burnout and resilience. [PDF]

BMC Pediatr
Özsaydi Aktaşoğlu E, Akyüz A, Gökalp S, Altun AN, Demi̇r F, Gönen E, Soysal Acar AŞ, İnci̇ A, Okur İ, Ezgü FS, Tümer L.   +10 more
europepmc   +1 more source