Results 121 to 130 of about 499,338 (183)

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

Managing Pregnancy in Inherited Metabolic Disorders: Experience From a Single Tertiary Metabolic Center. [PDF]

J Obstet Gynaecol Res
İşler-Soylu E, Zubarioglu T, Uygur E, Aras-Çöl T, Babazade-Aghakishili H, Çalışgan K, Kıykım E, Aktuğlu-Zeybek Ç.   +7 more
europepmc   +1 more source

Use of a Slow-Release Phenylalanine-Free Microtablet Protein Substitute in Children and Adolescents with Phenylketonuria: An Observational Pilot Study. [PDF]

Nutrients
Tosi M, Daly A, Ashmore C, Yilmaz Nas O, Pinto A, Evans S, MacDonald A.   +6 more
europepmc   +1 more source

Prediction of Cyanotic Congenital Heart Disease Risk in U.S. Births. [PDF]

J Cardiovasc Dev Dis
Reddy R, Saad M, Sellke FW.
europepmc   +1 more source

Management of maternal phenylketonuria: an emerging clinical problem

, 1979
Komrower, G.M.
core  

Adult-Onset Ataxia and Tremor as a Manifestation of Undiagnosed Phenylketonuria. [PDF]

Mov Disord Clin Pract
Garcia-Campos C, Feliz Feliz C, Del Val Fernández J, Lorda Sánchez I, Garcia-Ruiz PJ.   +4 more
europepmc   +1 more source

Integrating telemedicine into nutritional management of infants with inherited metabolic disorders: a pilot study. [PDF]

Front Pediatr
Tagi VM, Montanari C, Tosi M, Stucchi E, Cartalemi AME, Gandini L, Eletti F, Perico V, Borsani B, Fiori L, Calcaterra V, Zuccotti G.   +11 more
europepmc   +1 more source

Carrier frequency of autosomal recessive monogenic disorders in the peruvian population. [PDF]

Front Genet
Abarca Barriga HH, Vásquez-Sotomayor FDM, Punil Luciano R.   +2 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

Editorial: Innovative approaches to nutrition counseling in pediatric dietetics - guidelines, practices, and future directions. [PDF]

Front Nutr
Krupa-Kotara K, Kozioł-Kozakowska A, Brzeziński M.   +2 more
europepmc   +1 more source