Results 171 to 180 of about 68,473 (259)

Hyperphenylalaninemia and Mental Retardation : The Effects of a High Maternal Phenylalanine Blood Concentration on Mouse Offspring

, 1970
Stephen A. Mozara
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Supplementary Material for: Pterin Profiling in Serum, Dried Blood Spot and Urine Samples Using LC-MS/MS in Patients With Inherited Hyperphenylalaninemia

Öktem R.M., Aslı İnci, Hacer Bayrak, Funda Demir, Gürsel Biberoğlu, Maviş M.E., Gürsu G.G., H. Yılmaz, İlyas Okur, Ezgü F.S., Leyla Tümer   +10 more
openalex   +1 more source

7-Substituted Pterins: Loading Experiments with 3'-Mono Deuterated Tetrahydro-L-Biopterin [PDF]

, 2017
Adler, C., Blaskovics, M., Curtius, H.-C, Giudici, T. A., Viscontini, M., Wetzel, E.   +5 more
core  

Enhancement of therapeutic transgene insertion for treatment of murine phenylketonuria. [PDF]

Mol Ther Nucleic Acids
Martinez MA, Richards DY, Winn SR, Baris AM, Vonada A, Harper L, Harding CO.   +6 more
europepmc   +1 more source

Mutation Analysis In Patients with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency [PDF]

, 2017
Blau, Nenad, Brandt, Niels Jacob, Heizmann, Claus W., Leimbacher, Walter, Oppliger, Tanja, Scheibenreiter, Susanne, Thony, Beat   +6 more
core  

From dietary restriction to disease-targeted therapy: Sephience TM (sepiapterin) in phenylketonuria. [PDF]

Ann Med Surg (Lond)
Chandani HK, Sahira, Hujjat SFZ, Khan MS, Mahmoud A.   +4 more
europepmc   +1 more source

Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria [PDF]

, 2018
Blau, Nenad, Kern, Ilse, Kierat, Lucja, Opladen, Thomas, Thöny, Beat, Zurflüh, Marcel   +5 more
core  

Newborn screening for hyperphenylalaninemia: a cohort study

, 2012
Simone de Menezes Karam, Laura Bannach Jardim, Roberto Giugliani, Bernardo Lessa Horta   +3 more
openalex   +1 more source