Results 211 to 220 of about 277,075 (350)

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

Causes of Vitamin B₁₂ and Folate Deficiency

, 2008
Lindsay H. Allen
openalex   +1 more source

Vitamin B ₁₂ Deficiency: A Rare Cause of Excessive Daytime Sleepiness [PDF]

, 2019
Imran Khawaja, Kevin Yingling, Hazim Bukamur, Waiel Abusnina   +3 more
openalex   +1 more source

Metabolism of propionate in the vitamin B₁₂-deficient rat [PDF]

British Journal of Nutrition, 1972
G. H. Spray, D. L. Williams
openaire   +2 more sources

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 deficiency and polycystic ovary syndrome: an opinion and positioning article. [PDF]

Front Nutr
Song G.
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

Vitamin D Deficiency as an Independent Predictor for Plaque Vulnerability and All-Cause Mortality in Patients with High-Grade Carotid Disease. [PDF]

J Clin Med
Kampf S, Harkot O, Marculescu R, Demyanets S, Klinger M, Eilenberg W, Wojta J, Neumayer C, Stojkovic S.   +8 more
europepmc   +1 more source

Plantacare 2000: A Biosurfactant for an Eco‐Friendly Palladium Catalyzed Cyanation of Aromatic Bromides

Asian Journal of Organic Chemistry, EarlyView.
Abstract We introduce here Plantacare 2000 (PL‐2000), a renewable biosurfactant for sustainable palladium‐catalysed cyanation reactions in water. PL‐2000 is derived from plant‐based raw materials, is fully biodegradable, nontoxic to the aquatic environment and commercially available without the need for complex synthesis.
Simone Zurzolo, Elena Ermini, Erica Locatelli, Elena Petricci, Giuseppina I. Truglio, Luigi Vaccaro, Federica Valentini, Maurizio Taddei   +7 more
wiley   +1 more source

Micronutrient status of patients with diabetic foot: A systematic review. [PDF]

Asia Pac J Clin Nutr
Batarbekova S, Zhunussova D, Derbissalina G, Bekbergenova Z, Maksimova N, Umbetzhanova A, Kelimberdiyeva E, Kassymova R, Kuanyshbayeva G, Imangaliyeva A.   +9 more
europepmc   +1 more source