Results 161 to 170 of about 68,473 (259)

Neurofilament proteins in brain diseases [PDF]

, 2006
Braissant, O.
core  

Predictive value of fluorometric method and tandem mass spectrometry for hyperphenylalaninemia and its subtypes in China: A systematic review and meta‑analysis

Zhirong Shang, Pan Xie, Ke Pan, Jialin Liu, Wei Xu, Yue Hu, Li Tang, Qinghua Leng, Shuyu Liu, Chengchuan He   +9 more
openalex   +2 more sources

Genomic Organization of Mouse and Human GTP Cyclohydrolase I Genes and Mutations Found in the Human Gene [PDF]

, 2017
Blau, Nenad, Ichinose, Hiroshi, Matalon, Reuben, Nagatsu, Toshiharu   +3 more
core  

Maternal Hyperphenylalaninemia Induced Experimentally: Decreased Incorporation of ¹⁴C-Leucine into Protein in the Brain of the Fetus

, 1974
Goro Takada, Ian Chow, Keiya Tada
openalex   +2 more sources

Human Liver Pterin 4 a-Carbinolamine Dehydratase. Purification and Characterization [PDF]

, 2017
Adler, C., Curtius, H.-Ch, Herrmann, F. H., Petruschka, L., Rebrin, I.   +4 more
core  

Executive functions & metabolic control in phenylketonuria (PKU) and mild hyperphenylalaninemia (mHPA)

Anne Tomm, Alena Gerlinde Thiele, Carmen Rohde, Stefanie Kirmse, Wieland Kieß, Skadi Beblo   +5 more
openalex   +1 more source

Dynamics of hyperphenylalaninemia and intellectual outcome in teenagers with phenylketonuria

, 2017
Bożena Didycz, Mirosław Bik-Multanowski   +1 more
openalex   +2 more sources

BH 4 deficiency identified in a neonatal screening program for hyperphenylalaninemia

, 2018
Cezar Antonio Abreu de Souza, Michelle Rosa Andrade Alves, Rosângelis D. L. Soares, Viviane de Cássia Kanufre, Valéria de Melo Rodrigues, Rocksane de Carvalho Norton, Ana Lúcia Pimenta Starling, Marcos José Burle de Aguiar   +7 more
openalex   +1 more source

Prenatal Diagnosis of Dihydropteridine Reductase Deficiency in a Twin Pregnancy [PDF]

, 2017
Binkert, F., Blau, N., Guardamagna, O., Kierat, L., Matasovic, A., Ponzone, A., Ponzone, R., Spada, M., Viora, E.   +8 more
core  

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