Results 111 to 120 of about 7,599 (237)

Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia [PDF]

, 2019
Lili Liang, Jun Ye, Lianshu Han, Wenjuan Qiu, Huiwen Zhang, Yongguo Yu, Tianwen Zhu, Feng Xu, Xia Zhan, Pei-Zhong Bao, Wenjun Ji, Xuefan Gu   +11 more
openalex   +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

Use of Acute Hyperphenylalaninemia in Rhesus Monkeys to Examine Sensitivity and Stability of the l-[1-¹¹C]Leucine Method for Measurement of Regional Rates of Cerebral Protein Synthesis with Pet

, 2008
Carolyn Beebe Smith, Kathleen Schmidt, Shrinivas Bishu, Michael A. Channing, Jeff Bacon, Thomas V Burlin, Mei Qin, Liu Z, Zengyan Xia, Tianjiang Huang, Bee-Kee Vuong, Peter Herscovitch   +11 more
openalex   +1 more source

Different Strategies In the Treatment of Dihydropteridine Reductase Deficiency [PDF]

, 2017
Blau, N., de Sanctis, L., Ferraris, S., Ferrero, G. B., Meli, C., Ponzone, A., Spada, M.   +6 more
core  

Urgent need for newborn targeted sequencing screening technology in Shandong Province, China. [PDF]

World J Pediatr
Mu JL, Sun M, Li YL, Li PP, Zou H.
europepmc   +1 more source

Clinical, Biochemical, and Radiologic Profiles of Filipino Patients with 6-Pyruvoyl-Tetrahydrobiopterin Synthase (6-PTPS) Deficiency and their Neurodevelopmental Outcomes. [PDF]

Acta Med Philipp
de Castro-Hamoy LG, Moral MALA, Calotes-Castillo LV, Abacan MAR, Cordero CP, Pagaspas MLC, Maceda EBG, Estrada SC, Chiong MAD.   +8 more
europepmc   +1 more source

Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies

, 2011
Babette W Prick, Wim C.J. Hop, Johannes J. Duvekot   +2 more
openalex   +1 more source

Monitoring Treatment in Tetrahydrobiopterin Deficiency [PDF]

, 2017
Blau, N., Ferraris, S., Guardamagna, O., Parrella, T., Ponzone, A., Ponzone, R., Spada, M.   +6 more
core  

Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model. [PDF]

Orphanet J Rare Dis
Wang S, Shen M, Pang B, Zhou B, Yuan Y, Lu M, Deng X, Yang M, Liu S, Wang Q, Xue M, Xia Q, Zhang Z.   +12 more
europepmc   +1 more source

Intellectual and Developmental Status in Children With Hyperphenylalaninemia and PKU Who Were Screened in a National Program

, 2015
Parisa Aghasi, Arya Setoodeh, Azadeh Sayarifard, Maryam Rashidiyan, Fatemeh Sayarifard, Ali Rabbani, Javad Mahmoudi‐Gharaei   +6 more
openalex   +2 more sources