Results 291 to 300 of about 737,693 (384)

Effects of B Vitamins on Symptoms and Cognitive Functions in Schizophrenia: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial. [PDF]

Iran J Psychiatry
Agmashe S, Sadighi G, Radman N, Mazinani R.   +3 more
europepmc   +1 more source

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron, Andrew Oldham, Amit Herwadkar, Sarah Jenkinson, Christopher Campbell, Kate Neal, Heather J. Church, James A. Cooper, Karolina M. Stepien   +8 more
wiley   +1 more source

Optimizing vitamin supplementation via reference interval update of vitamins A, E, B1, and B6 using HPLC. [PDF]

J Clin Biochem Nutr
Caballero A, Gonzalez-Silva G, Gabriel-Medina P, Cuadros M, Ayora A, Blanco-Grau A, Martin-Riera V, Conesa L, Moreno F, Garriga-Edo S, Peris-Serra L, Sanz-Gea C, Villena Y.   +12 more
europepmc   +1 more source

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi, Carmela Fusco, Rosamaria Mura, Carla Cerruto, Leonardo D'Agruma, Salvatore Carnazzo, Marco Castori, Salvatore Savasta   +7 more
wiley   +1 more source

THE ANTINEURITIC VITAMIN

, 1932
Richard J. Block, George R. Cowgill
openalex   +1 more source

Identification of Phenotypic Diversity and DArTseq Loci Associated with Vitamin A Contents in Turkish Common Bean Germplasm Through GWAS. [PDF]

Plants (Basel)
Çilesiz Y, Altaf MT, Nadeem MA, Ali A, Sesiz U, Alsaleh A, İlçim A, Özer MS, Erdem T, Aziz I, Mansoor S, Karaköy T, Baloch FS.   +12 more
europepmc   +1 more source

Potential New Expression Biomarkers for Anorexia Nervosa

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Anorexia nervosa (AN) is a psychiatric disorder with an estimated heritability of around 70%. Although the largest meta‐analysis of genome‐wide association studies on AN identified independent risk‐conferring loci for the disorder, the molecular mechanisms underlying the genetic basis of AN remain to be elucidated.
Camille Verebi, Nicolas Lebrun, Justine Vily Petit, Odile Viltart, Philibert Duriez, Benjamin Saint‐Pierre, Philip Gorwood, Nicolas Ramoz, Thierry Bienvenu   +8 more
wiley   +1 more source

Rapid Determination of Water-Soluble Vitamins in Human Serum by Ultrahigh-Performance Liquid Chromatography-Tandem Mass Spectrometry. [PDF]

ACS Omega
Zhang M, Zhang C, Cai H, Xie Y, Chai L, Sun M, Liu J, Liu J, Yi C, Fan H, Yi W, Lv Z.   +11 more
europepmc   +1 more source

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