Results 31 to 40 of about 19,913 (244)

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

Effects of Ascorbic Acid Deficiencies on Larvae of \u3ci\u3eLymantria Dispar\u3c/i\u3e (Lepidoptera: Lymantriidae) [PDF]

, 2017
We assessed the effects of ascorbic acid and total vitamin deficiencies on growth, food processing efficiencies and survival of larval gypsy moths. Artificial diet lacking ascorbic acid did not alter performance of fourth instars, whereas diet lacking a ...
Lindroth, Richard L, Weiss, Anthony P
core   +2 more sources

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

Bottom‐Up Coacervate‐Based Artificial Cells: Integrating Cellular Hallmarks into Complex Life‐Like Systems

Angewandte Chemie, EarlyView.
Current interest in artificial cell research underscores its potential to deepen our understanding of life's fundamental processes. This review highlights advances in bottom‐up coacervate‐based artificial cell engineering via combined integration of cellular hallmarks.
Arjan Hazegh Nikroo, Angshuman Das, Madelief A. M. Verwiel, Jan C. M. van Hest   +3 more
wiley   +2 more sources

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, Melis Demir, Gül Aktan, Hasan Tekgül, Sarenur Gökben   +4 more
doaj   +1 more source

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy [PDF]

JIMD Rep
ABSTRACT Pyridox(am)ine‐5′‐phosphate oxidase (PNPO) deficiency is characterized by early‐onset epileptic encephalopathy refractory to standard antiseizure medications. It is caused by variants in the PNPO gene, resulting in deficient PNPO enzyme activity, which normally converts pyridoxine‐5′‐phosphate and pyridoxamine‐5′‐phosphate (two vitamers of ...
de Puyraimond C, Pichard S, Girard M, Delanne J, Faivre L, Imbard A, Baurand A, Benoist J, Mills P, Clayton P, Schiff M.   +10 more
europepmc   +2 more sources

Synthesis of B6 vitamin [PDF]

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., Petrović Slobodan D., Bezbradica Dejan I., Knežević-Jugović Zorica D., Mijin Dušan Ž.   +4 more
doaj   +1 more source

Treatment of severe neutropenia with high-dose pyridoxine in a patient with chronic graft versus host disease and squamous cell carcinoma: a case report [PDF]

, 2011
Introduction The differential diagnosis of neutropenia includes medications, infections, autoimmune diseases, and deficiencies of Vitamin B12 and folate. The association of Vitamin B6 deficiency with severe neutropenia is a rare finding.
Mariam Rauf, Charise Gleason, Ajay K Nooka, Abbie Husman, Edmund K Waller   +4 more
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 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