Results 111 to 120 of about 7,346 (216)

Watching Excited State Dynamics with Optical and X-ray Probes: The Excited State Dynamics of Aquocobalamin and Hydroxocobalamin

open access: green, 2023
Roseanne J. Sension   +21 more
openalex   +2 more sources

Defects in Human Methionine Synthase in cblG Patients [PDF]

open access: yes, 2017
Inborn errors resulting in isolated functional methionine synthase deficiency fall into two complementation groups, cblG and cblE. Using biochemical approaches we demonstrate that one cblG patient has greatly reduced levels of methionine synthase while ...
Baker, Priscilla   +6 more
core  

Fundamental Molecules of Life are Pigments which Arose and Evolved to Dissipate the Solar Spectrum

open access: yes, 2014
The driving force behind the origin and evolution of life has been the thermodynamic imperative of increasing the entropy production of the biosphere through increasing the global solar photon dissipation rate.
Michaelian, Karo, Simeonov, Aleksandar
core   +2 more sources

ePoster

open access: yes
European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia [PDF]

open access: yes, 2017
The cblG and cblC disorders of cobalamin (Cbl) metabolism are two inherited causes of megaloblastic anaemia. In cblG, mutations in methionine synthase (MTR) decrease conversion of hydroxocobalamin (HOCbl) to methylcobalamin, while in cblC, mutations in ...
Alberto, Jean-Marc   +14 more
core  

Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type

open access: yesHeliyon
Methylmalonic aciduria and homocystinuria, cobalamin C type (cblC), constitute the most common inborn error of intracellular cobalamin metabolism. Here, we report the case of a 6-month-old child, presenting severe subacute neurological decline associated
Etienne Mondesert   +8 more
doaj   +1 more source

Kidney-Limited Microangiopathy Associated with Methionine Synthase (Cobalamin G) Deficiency in a Pediatric Patient: Case Report and Review of the Literature

open access: yesGlomerular Diseases
Thrombotic microangiopathy (TMA) is a recognized sequela of inborn errors of metabolism impacting vitamin B12 (cobalamin) synthesis. Methylmalonic aciduria and homocystinuria, cobalamin deficiency type C is a well-known etiology for TMA.
Jonathan E. Zuckerman   +1 more
doaj   +1 more source

Absorption and retention of free and milk protein-bound cyano- and hydroxocobalamins. An experimental study in rats

open access: hybrid, 2015
Linda Skibsted Kornerup   +5 more
openalex   +1 more source

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