Results 41 to 50 of about 908,246 (301)
Children, 2023 Cysthiatonine beta-synthase (CBS) deficiency (CBSD) is an autosomal recessive rare disorder caused by variations on CBS that leads to impaired conversion of homocysteine (Hcy) to cystathionine.
Egidio Candela +9 more
doaj +1 more source
The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia
The Turkish Journal of Pediatrics, 2019 Pyridoxine-dependent epilepsy (PDE) is a rare but an important condition, since early diagnosis and treatment result in normal or near normal psychomotor development. It is caused by mutations in the Antiquitin (ALDH7A1) gene.
Hande Gazeteci-Tekin +4 more
doaj +1 more source
Hematologic Response of Pyridoxine Deficient Swine to Pyridoxine.
Experimental Biology and Medicine, 1963 SummaryThe anemia of pyridoxine-deficient swine fed a purified diet with 10 crystalline water soluble vitamins responded rapidly and completely to administration of pyridoxine. The mean volume of packed red cells (V. P. R. C.) at the beginning of the experiment was 40 ml/100 ml; at time of therapy, 23 ml/100 ml; and after therapy with pyridoxine, 41 ml/
G E, CARTWRIGHT, D, KURTH, M M, WINTROBE
openaire +2 more sources
ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy
Pediatric Neurology Briefs, 2010 Researchers at University College and Great Ormond Street Hospital for Children, London, and other centers in the UK and Europe investigated the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) by measurement of urinary alpha ...
J Gordon Millichap
doaj +1 more source
Journal of Inherited Metabolic Disease, 2019 Deficiency of antiquitin (ATQ), an enzyme involved in lysine degradation, is the major cause of vitamin B6‐dependent epilepsy. Accumulation of the potentially neurotoxic α‐aminoadipic semialdehyde (AASA) may contribute to frequently associated ...
L. Crowther +3 more
semanticscholar +1 more source
Hemijska Industrija, 2009 The importance of vitamin B6 has been known since its discovery in the 1940's. Chemical tests, elestrometric titration determinations, and absorption spectrum studies showed that this vitamin exists in three major chemical forms: pyridoxine (an alcohol),
Vučijak Nevena Ž. +4 more
doaj +1 more source
Advanced Functional Materials, EarlyView.Metabolic changes in immune cells direct the phenotype and function of the host immune system. Smart nanomaterials must target metabolic pathways to direct immune cell fate. This study reports the fabrication and first application of germanane quantum dots (GeHQDs) to modulate inflammation in vitro and in vivo.
Abhay Srivastava +7 more
wiley +1 more source
Pyridoxine Responsiveness and PNPO Gene Mutations
Pediatric Neurology Briefs, 2014 Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada, sequenced the pyridoxal 5-phosphate oxidase (PNPO) gene in 31 patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin ...
J Gordon Millichap, John J Millichap
doaj +1 more source
Advanced Photonics Research, EarlyView.Recent advances in nanophotonics‐based chiral biosensing approaches are comprehensively reviewed, highlighting key trends, advantages, and limitations of each technology. Special attention is given to emerging strategies that exploit magneto‐optical and quantum plasmonic phenomena to enhance sensitivity down to the level of a few molecules, or even a ...
Jorge Ricardo Mejía‐Salazar
wiley +1 more source
Dynamics of the Mammalian Placental Metabolome in Placentogenesis and Embryonic Development
Advanced Science, EarlyView.This study identifies three metabolic stages (E8.5, E9.5–10.5, E11.5–14.5) and two transition periods (E8.5–9.5, E10.5–11.5) in mouse placental development. NAD(H) emerges as a key dynamic metabolite that enhances embryonic growth through accelerated segmentation and increased proliferation of mouse embryonic stem cell (mESC)‐induced presomitic ...
Gang Chen +11 more
wiley +1 more source