Results 31 to 40 of about 28,846 (248)

4-Pyridoxic Acid/Pyridoxine Ratio in Patients with Type 2 Diabetes is Related to Global Cardiovascular Risk Scores

Diagnostics, 2019
Background: Vascular diseases are multifactorial and several risk factors may have synergetic effect on the global vascular risk. Among patients with diabetes, we investigated whether vitamin B6 species differ according to global cardiovascular risk ...
Rima Obeid, Juergen Geisel, Wilfred A. Nix   +2 more
doaj   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

Pyridoxine Deficiency in Hyperthyroidism.

Experimental Biology and Medicine, 1960
SummaryThe occurrence of pyridoxine deficiency was determined in 14 patients with hyperthyroidism and 14 control euthyroid patients by the tryptophan load test. Urinary xanthurenic acid excretion following the tryptophan load test was significantly greater in hyperthyroid patients than in controls.
G. Maldia, Howard A. Levy, Michael G. Wohl, Anton Szutka   +3 more
openaire   +3 more sources

Hazelnut: Explorations toward the Biocatalytic Synthesis of its Aroma Precursor

ChemBioChem, EarlyView.
This article proposes a biosynthetic route for synthesizing filbertone, the principal flavor compound of hazelnut, through a multienzyme cascade. The pathway uses D‐amino acid oxidase, threonine deaminase, and a regioselective transketolase from Geobacillus stearothermophilus to produce a sustainable, natural hazelnut aroma precursor, addressing ...
Mireia Salvadó‐Pau, Wolf‐Dieter Fessner, Zvjezdana Findrik Blažević, Michael Breuer   +3 more
wiley   +1 more source

Pyridoxine-responsive Anemia: Influence of Tryptophan on Pyridoxine Responsiveness [PDF]

Blood, 1973
Abstract This study presents evidence that the indolic amino acid, tryptophan, critically influences pyridoxine responsiveness in a patient with pyridoxine-responsive anemia. Continuing observations for 18 yr on this now 54-yr-old white man have shown responsiveness to oral crude liver extract and to pyridoxine.
openaire   +3 more sources

Seminars in epileptology: How to diagnose status epilepticus in adults and children

Epileptic Disorders, EarlyView.
Abstract Status epilepticus (SE) can be regarded as the most severe expression of seizure activity characterized by a low probability of spontaneous cessation and mechanisms leading to metabolic and inflammatory derangements with increased risk of brain damage, alterations of neural networks, and potentially life‐threatening systemic complications ...
M. Leitinger, P. Bosque‐Varela, G. Kuchukhidze, U. Leitner, J. Höfler, G. Kalss, F. Rossini, G. Pilz, H. Novak, M. Mauritz, K. Poppert, A. Toma, E. Trinka   +12 more
wiley   +1 more source

TUBA1A‐related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures

Epileptic Disorders, EarlyView.
Abstract Patients with TUBA1A pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common seizure types.
Andy Cheuk‐Him Ng, Morris H. Scantlebury   +1 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Insights into the Cardioprotective Effects of Pyridoxine Treatment in Diabetic Rats: A Study on Cardiac Oxidative Stress, Cardiometabolic Status, and Cardiovascular Biomarkers

Diagnostics
The aims of this study were to examine the effects of pyridoxine administration on the activities of cardiac antioxidant stress enzymes superoxide dismutase (SOD) and catalase (CAT) and enzyme indicators of cardiometabolic status, lactate and malate ...
Slavica Mutavdzin Krneta, Kristina Gopcevic, Sanja Stankovic, Jovana Jakovljevic Uzelac, Dušan Todorovic, Milica Labudovic Borovic, Jelena Rakocevic, Dragan Djuric   +7 more
doaj   +1 more source