Results 111 to 120 of about 7,346 (216)
Defects in Human Methionine Synthase in cblG Patients [PDF]
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
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
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia [PDF]
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
Wine-Colored Plasma and Urine from Hydroxocobalamin Treatment [PDF]
Sophia Wong, Morris Pudek, Dailin Li
openalex +1 more source
From Rescue to Prevention: Prophylactic Hydroxocobalamin Shows Promise in Mitigating Vasoplegic Shock Post Cardiopulmonary Bypass [PDF]
Nicolas Kumar, Jamel Ortoleva
openalex +1 more source
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
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

