Results 151 to 160 of about 7,599 (237)

L-Dopa Might Be Insufficient to Suppress Development of Prolactinomas in Dihydropteridine Reductase-Deficiency Patients. [PDF]

JCEM Case Rep
Diaz-Moreno U, Gan CG, Pujari D, Gan HW, Batzios S.   +4 more
europepmc   +1 more source

Two Siblings of Hyperphenylalaninemia: Suggestion to a Genetic Variant of Phenylketonuria

, 1970
Keiya Tada, Toshio Yoshida, Keiko Mochizuki, Tasuke Konno, Hiroshi Nakagawa, Yoshimasa Yokoyama, Goro Takada, Tsuneo Arakawa   +7 more
openalex   +2 more sources

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China. [PDF]

PeerJ
Zhu J, Han L, Yang P, Feng Z, Xue S.
europepmc   +1 more source

A Rare Combination of Compound Heterozygous Mutations in the PAH Gene in Three Unrelated Consanguineous Iranian Families with Classical Phenylketonuria. [PDF]

Adv Biomed Res
Rahimzadeh A, Khosravi T, Motallebi F, Al Sudani ZM, Vaghefi F, Kowsari A, Oladnabi M.   +6 more
europepmc   +1 more source

Amelioration of radiation-induced skin injury by tetrahydrobiopterin: preclinical study and phase II trial. [PDF]

Mol Biomed
Li K, Song B, Yin R, Zhang S.
europepmc   +1 more source

Phenylketonuria and hyperphenylalaninemia in eastern Germany: A characteristic molecular profile and 15 novel mutations

, 2000
Julia B. Hennermann, Barbara Vetter, Claudia Wolf, Elke Windt, Peter B�hrdel, J�rg Seidel, Eberhard M�nch, Andreas E. Kulozik   +7 more
openalex   +1 more source

Letter to the editor. [PDF]

HGG Adv
Harding CO, Martinez M.
europepmc   +1 more source

Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran. [PDF]

Mol Genet Metab Rep
Shakiba M, Yasaei M, Saneifard H, Mosallanejad A, Alaei MR, Kobarfard F, Esfahanizadeh M, Anousheh N.   +7 more
europepmc   +1 more source

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   +2 more sources

Portable Collection of Breath Phenylpyruvic Acid for Noninvasive Assessment of Pediatric Hyperphenylalaninemia by Mass Spectrometry

Haiyan Luo, Kang Xie, P. Ma, Lu Wan, Jia Ren, Yanqiu Liu, Jianfeng Zhang, Bin Hu, Qing Lü, Bicheng Yang   +9 more
openalex   +1 more source