Results 21 to 30 of about 529,955 (177)
BMC Medical Genomics, 2021 Background Phenylketonuria (PKU) is a metabolic disease that can cause severe and irreversible brain damage without treatment. Methods Here we developed a non-invasive prenatal diagnosis (NIPD) technique based on haplotypes via paired-end molecular tags ...
Dai Peng +5 more
doaj +1 more source
The first study of successful pregnancies in Chinese patients with Phenylketonuria
BMC Pregnancy and Childbirth, 2020 Background Since the inception of newborn screening programs in China in the 1990s, pregnancy among patients with inherited, metabolic disorders has become more common.
Lin Wang +9 more
doaj +1 more source
MRI characterization of cerebral dysgenesis in maternal PKU [PDF]
Acta Paediatrica, 1994 MPKU pregnancies, with or without dietary treatment to reduce maternal plasma phenylalanine (phe), show variable, increased non‐physiologic levels, as the putative cause of fetal teratogenicity. Cerebral dysgenesis with clinical neonatal microcephaly and congenital heart disease indicates altered organ morphogenesis.
Allen, Richard J. +4 more
openaire +3 more sources
Reproductive experience of women living with phenylketonuria
Molecular Genetics and Metabolism Reports, 2018 Introduction: Many women with PKU are well-informed about the risks of maternal PKU but there are several barriers to achieving satisfactory metabolic control before and during pregnancy.
Suzanne Ford +2 more
doaj +1 more source
AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria
Molecular Therapy: Methods & Clinical Development, 2020 Phenylketonuria (PKU) due to recessively inherited phenylalanine hydroxylase (PAH) deficiency results in hyperphenylalaninemia, which is toxic to the central nervous system. Restriction of dietary phenylalanine intake remains the standard of PKU care and
Daelyn Y. Richards +6 more
doaj +1 more source
Effect of experimental phenylketonuria on some organs of pregnant mothers of albino rats and their young’s during perinatal life. [PDF]
Journal of Bioscience and Applied Research, 2016 Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.It results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of ...
Hassan. I. Elsayyad +3 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2019 Sapropterin dihydrochloride (SD) may be a new treatment option for women with phenylketonuria (PKU) who plan to become pregnant. We report the first Japanese case of maternal PKU treated with SD.
Hiromi Nyuzuki +3 more
doaj +1 more source
Biochemistry and Biophysics Reports, 2023 Introduction: Epithelial ovarian cancer (EOC) is a highly aggressive disease whose unique metastatic site is the omentum. Coiled-coil domain containing 3 (CCDC3) is an adipocyte-derived secreted protein that is specifically elevated in omental adipose ...
Fen Wang +5 more
doaj +1 more source
Hargai petugas PKU, barisan hadapan kita [PDF]
, 2020 Kuantan, 9 April – Mendepani penularan wabak Covid-19 yang telah diisytiharkan sebagai pandemik oleh Pertubuhan Kesihatan Sedunia (WHO), Pusat Kesihatan Universiti (PKU) sentiasa bersiap siaga ‘memerangi’ penularan wabak tersebut di kampus ...
Siti Nurfarmy, Ibrahim
core +1 more source
, 2022 The output was commissioned for an international event for healthcare professionals to gain an insight into the metabolic PKU (Phenylketonuria) condition and the maternity perspective.
Chimiak, Tom
core +1 more source