Results 181 to 190 of about 26,855 (306)
Diagnosis and Genetic Analysis of Glutaric Acidaemia Type I: Very rarely seen inborn error of metabolism. [PDF]
Vasikarla M +4 more
europepmc +1 more source
206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China [PDF]
Gang Xiao +10 more
openalex +1 more source
The return of metabolism: biochemistry and physiology of glycolysis
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning +19 more
wiley +1 more source
ABSTRACT Objective Despite an increased cerebrovascular disease risk, the impact of Polycystic Ovary Syndrome (PCOS) on cerebrovascular haemodynamics and function is unknown. This study characterised cerebrovascular haemodynamics and function in women with PCOS versus healthy controls. Design Case‐control study.
Cory T. Richards +13 more
wiley +1 more source
A rare inborn error of metabolism associated with a Dandy-Walker malformation. [PDF]
Manel L +4 more
europepmc +1 more source
ABSTRACT Objective Polycystic ovary syndrome (PCOS) is associated with an increased risk of cerebrovascular disease, but the effects on cerebrovascular function are unknown. In this pilot study, we sought to compare cerebrovascular perfusion, pulsatility, reactivity and metabolism between women with PCOS and healthy volunteers using MRI, and ...
Melissa E. Wright +5 more
wiley +1 more source
Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism. [PDF]
Mistry PK +3 more
europepmc +1 more source

