Results 341 to 350 of about 2,204,239 (409)

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

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

Vitamin D-is the sun enough for us? [PDF]

Nutr Metab (Lond)
Gruber-Bzura BM.
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

Vitamin D Knowledge, Attitudes, Practices and Serum Concentration Among Pregnant Women Attending a Malaysian Tertiary Hospital. [PDF]

Food Sci Nutr
Ibrahim Y, Jamil AAM, Basri NI, Reen SLS, Asmunni MDI, Govidarajoo N.   +5 more
europepmc   +1 more source

Comparison of cardiovascular autonomic function and biomarkers between vitamin D insufficient and deficient people with newly diagnosed type 2 diabetes mellitus. [PDF]

J Family Med Prim Care
Murugiah V, Pal P, Sahoo JP, Nanda N, Shamanna SB.   +4 more
europepmc   +1 more source

Correlation between vitamin A, D, E, and K levels in children with allergic rhinitis: a propensity-matched analysis. [PDF]

BMC Pediatr
Luo H, Wang X, Kong H, Wang J, Zhou Q.
europepmc   +1 more source

Serum Concentrations of Interleukin-8 and Vitamin D Levels in Jordanian Patients with Rheumatoid Arthritis. [PDF]

J Inflamm Res
Ali Deeb AS, Selawi SH, Amawi KF, Hamdallah AE, Basha SAZ.   +4 more
europepmc   +1 more source

VITAMINS

American Journal of Public Health, 1923
openaire   +3 more sources