Results 181 to 190 of about 48,194 (317)
Phenylketonuria (PKU) – A Success Story [PDF]
, 2012 Phenylketonuria (PKU; OMIN 261600 and 261630) is an autosomal recessive geneticmetabolic disease. It is one of the most common of over 200 known such diseases, at least 30 of which have treatments to ameliorate the adverse effects. PKU is one of the first diseases causing mental and physical disability for which successful treatment has been developed.
openaire +3 more sources
Reinstitution of diet therapy in PKU patients from twenty-two US clinics.
, 1985 V E Schuett +2 more
openalex +2 more sources
Defining tetrahydrobiopterin (BH4)‐responsiveness in PKU [PDF]
, 2008 Nenad Blau
openalex +1 more source
White and gray matter brain development in children and young adults with phenylketonuria
NeuroImage: Clinical, 2019 Phenylketonuria (PKU) is a recessive disorder characterized by disruption in the metabolism of the amino acid phenylalanine (Phe). Prior research indicates that individuals with PKU have substantial white matter (WM) compromise.
Zoë Hawks +7 more
doaj
119. Long-Term Correction of Hyperphenylalaninemia in a Mouse Model for PKU by Intramuscular Delivery of AAV Expressing PAH with Serotypes 1, 2 or 8 [PDF]
, 2008 openalex +1 more source
The financial and time burden associated with phenylketonuria treatment in the United States
Molecular Genetics and Metabolism Reports, 2019 Background: Phenylketonuria (PKU) imposes a substantial burden on people living with the condition and their families. However, little is known about the time cost and financial burden of having PKU or caring for a child with the condition.
Angela M. Rose +6 more
doaj
, 2014 Universitas Diponegoro Fakultas Kesehatan Masyarakat Program Magister Ilmu Kesehatan Masyarakat Konsentrasi Sistem Informasi Manajemen Kesehatan 2014 ABSTRAK Rinda Nurul Karimah Pengembangan Sistem Informasi sebagai Pendukung Asuhan Gizi Rawat
Karimah, Rinda Nurul +2 more
core +1 more source
172. Therapeutic Thresholds for Liver-Directed Gene Therapy of Phenylketonuria (PKU) [PDF]
, 2009 openalex +1 more source
Radiopharmaceutical Chemistry in Peking University (PKU)
, 2000 Xiangyun Wang +3 more
openalex +2 more sources