Results 311 to 320 of about 14,407,068 (395)

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Chronic Nitrous Oxide Toxicity Despite Elevated Serum Vitamin B₁₂ Level: A Case Report. [PDF]

Clin Pract Cases Emerg Med
Graves J, Hafner J.
europepmc   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino, Marco Calabrò, Carmenrita Infortuna, Maria Rosaria Anna Muscatello, Silvana Briuglia, Nicola Cicero, Chiara Fabbri, Alessandro Serretti, Concetta Crisafulli   +8 more
wiley   +1 more source

Role of N-acetylcysteine and vitamin B complex in improving outcomes of corrosive ingestion. [PDF]

Toxicol Res (Camb)
El-Sobky H, El-Shanawany SM, Ghanem M, Atef M.   +3 more
europepmc   +1 more source

Vitamin B-Versorgung und Epilepsie [PDF]

, 1990
Krause, Klaus-Henning
core  

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

To Evaluate the Effect of Vitamin B Complex on Wound Healing - A Clinical and Microbiological Study.

J Pharm Bioallied Sci
Kalsi R, Bhushan KS, Mathur MK, Gupta V, Gupta DK, Pandey SK.   +5 more
europepmc   +1 more source

The Oral Bioavailability of Vitamin B₁₂ at Different Doses in Healthy Indian Adults. [PDF]

Nutrients
Kashyap S, Gowda P, Pasanna RM, Sivadas A, Sachdev HS, Kurpad AV, Devi S.   +6 more
europepmc   +1 more source

Diglycerides of Natural Phenols and Organic Acids for Enhanced Biological Activities

Asian Journal of Organic Chemistry, EarlyView.
Diglycerides of natural organic acids and phenols were synthesized regio‐selectively. Diglycerides are structurally similar to cell membranes and are expected to exhibit cell affinity and permeability. The flexible glycerol linkers allow the diglycerides to exhibit not only the physiological activities of each constituent organic acid but also the ...
Jisu Hong, Seunghyo Han, Huisu Yeo, Chanyoung Boo, Hyein Kim, Eunbi Kim, Boram Lim, Yeon Jeong Jo, Ji‐Seon Hyun, Nam Ho Lee, Sangho Koo   +10 more
wiley   +1 more source

Broad Vitamin B₆-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency). [PDF]

Int J Mol Sci
Ciapaite J, Albersen M, Savelberg SMC, Bosma M, Meijer NWF, Tessadori F, Bakkers JPW, van Haaften G, Jans JJ, Verhoeven-Duif NM.   +9 more
europepmc   +1 more source