Results 141 to 150 of about 16,232 (245)

ANALYTICAL METHODS DEVELOPMENT FOR THE DIAGNOSIS OF INBORN ERRORS OF METABOLISM

, 2008
Veneziano, Maria
core  

Funktion und Fehlfunktion der Phenylalaninhydroxylase in Abhängigkeit von Genotyp, metabolischem Status und Therapie mit dem pharmakologischen Chaperon Tetrahydrobiopterin [PDF]

, 2012
Staudigl, Michael
core  

Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study. [PDF]

JIMD Rep
Hollander S, Valli B, Vucko E, Lah M, Sanchez-Valle A, Murray BM, Kritzer A, Sacharow S.   +7 more
europepmc   +1 more source

Phenylketonuria tests

, 1975
New Mexico. Laws, statutes, etc.
core  

Rare diseases in the Turkish-Cypriot community: a nationwide study. [PDF]

J Community Genet
Koyutourk B, Ergoren MC.
europepmc   +1 more source

Pediatric phenylketonuria and the eye: Unveiling subclinical anterior segment changes. [PDF]

Indian J Ophthalmol
Seyyar SA, Soysal GG, Hopurcuoğlu D.
europepmc   +1 more source

Inhibitors of the Neutral Amino Acid Transporter SLC6A19 May Treat Diseases or Disorders Associated with Abnormal Amino Acid Metabolism, Epithelial Amino Acid Transport, and/or Amino Acid Levels. [PDF]

ACS Med Chem Lett
Abdel-Magid AF.
europepmc   +1 more source

Phenylketonuria; congenital hypothyroidism; meniscocytosis

, 1978
Louisiana. Laws, Statutes, etc.
core  

Genetic diagnosis and molecular characterization of three novel variations in the phenylalanine hydroxylase gene from Chinese patients with phenylketonuria. [PDF]

EXCLI J
Yang F, Li HF, Tang WJ, Zhu JP, Qiu JG, Cai TE, Yu LM, Yu Y.   +7 more
europepmc   +1 more source

Successful Management of Two Consecutive Pregnancies With Maternal-Fetal Phenylketonuria: Lessons From Clinical Practice. [PDF]

JIMD Rep
Lundkvist P, Malmberg KB, Lindström L, Kindmark A.   +3 more
europepmc   +1 more source