Results 161 to 170 of about 25,962 (237)

Phenylketonuria Alters the Prefrontal Cortex Genome-Wide Expression Profile Regardless of the Mouse Genetic Background. [PDF]

Cells
Fiori E, Guzzo SM, Lo Iacono L, Orsini C, Cabib S, Andolina D, Rossi L, Nardecchia F, Leuzzi V, Pascucci T.   +9 more
europepmc   +1 more source

Diagnostic Challenges and Outcome of Classical Phenylketonuria in a Resource-Constrained Middle Eastern Country. [PDF]

Int J Pediatr
Yazbeck N, Zalzal RN, El Oueichek F, Samaha J, Barhoumi A, Karam PE.   +5 more
europepmc   +1 more source

Newborn screening for inherited metabolic disorders in central China: a retrospective study of 153,956 infants using non-derivatized tandem mass spectrometry. [PDF]

Sci Rep
Han D, Tao Y, Li J, Wang L, Song W, Li X.   +5 more
europepmc   +1 more source

Metabolomic profiling in phenylketonuria: a systematic review of human studies. [PDF]

Metabolomics
Gonzalez-Rodriguez A, Urpi-Sarda M, Barrau-Martinez B, Campins-Machado FM, Bakkali-Aissaoui H, Pané A, Moreno PJ, Ortega E, Garcia-Villoria J, Ormazabal A, Garcia-Arenas D, Junqué C, Garrabou G, Llorach R, Consortium PKU.cat.   +14 more
europepmc   +1 more source

PHENYLKETONURIA.

Indian pediatrics, 1996
W R, CENTERWALL, S, KAPUR
openaire   +3 more sources

Age-Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria. [PDF]

J Inherit Metab Dis
Kitayama K, Sakaguchi T, Nakano N, Kabata D, Shintaku H, Hamazaki T.   +5 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

A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics. [PDF]

Orphanet J Rare Dis
Balci MC, Kor D, Yildiz Y, Karaca M, Bulut FD, Kahraman AB, Yesil A, Burgac E, Ciki K, Selamioglu A, Koseci B, Durmus A, Kaplan I, Kara E, Mungan HN, Sivri S, Gokcay GF, Tokatli A, Demirkol M, Coskun T, Ozalp I.   +20 more
europepmc   +1 more source

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation. [PDF]

Int J Neonatal Screen
Zakharova EY, Baydakova GV, Baranova PV, Aleksandrova DY, Shchagina OA, Itkis YS, Milovanova NV, Nagornova TS, Ivanova ON, Nazarenko YD, Voronin SV, Chukhrova AL, Kadnikova VA, Lotnik EE, Ryadninskaya NV, Polyakov AV, Savostyanov KV, Bilalov FS, Koroteev AL, Trofimov DY, Bairova TA, Seitova GN, Mordanov SV, Matulevich SA, Nikolaeva EB, Kutsev SI.   +25 more
europepmc   +1 more source