Mother and Baby on MSN8d
Everything you need to know about the newborn blood spot test (previously: the heel prick test)
You might be more familiar with the term 'heel prick test' as it was formerly known, but the 'newborn blood spot test' is ...
WebMD6y
Vitamins by Condition
Considering taking supplements to treat phenylketonuria pku? Below is a list of common natural remedies used to treat or reduce the symptoms of phenylketonuria pku. Follow the links to read common ...
pharmaphorum6y
FDA approves new treatment for rare genetic disease PKU
The US Food and Drug Administration (FDA) has approved biotech BioMarin’s Palynziq (pegvaliase-pqpz) for adults with the rare and serious genetic disease phenylketonuria (PKU). Patients with PKU ...
Nature2y
Mendelian Genetics: Patterns of Inheritance and Single-Gene Disorders
Single gene disorders, like Huntington’s disease and cystic fibrosis, actually follow Mendelian inheritance patterns. The PKU-associated enzyme deficiency was determined biochemically in the ...
Nature3y
High precision for reproductive science
Harnessing single-cell genomics, researchers at PKU’s BIOPIC ... embryos from couples with known monogenic diseases. In 2014, two IVF babies were born without their parents’ monogenic diseases ...
pharmaphorum1y
FDA approves new treatment for rare genetic disease PKU
The US Food and Drug Administration (FDA) has approved biotech BioMarin’s Palynziq (pegvaliase-pqpz) for adults with the rare and serious genetic disease phenylketonuria (PKU). Patients with PKU ...