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Salika Jeelani,Zarema Kassymbek Salika Jeelani
A novel and accurate ultra-high performance liquid chromatography (UHPLC) method combined with UV detector was developed for the simultaneous determination of 10 fat-soluble vitamins (retinyl acetate, retinyl palmitate, beta carotene, alpha...
Byung Kwon Pi,Ah Jin Lee,Soo Hyun Nam et al. Byung Kwon Pi et al.
Background and aims: The SLC5A6 gene encodes a transmembrane protein responsible for transporting biotin, pantothenic acid, and lipoic acid. Mutations in SLC5A6 have shown a wide spectrum of clinical phenotypes, such as s...
Reva Frankel,Courtney Verscaj,Christina G Tise et al. Reva Frankel et al.
There has been a multivitamin infusion (MVI) shortage for the last decade, generating increasing concerns for the neonatal population. This study evaluated a cohort of 4 total parenteral nutrition (TPN)-dependent neonates who presented with...
Nagashreyaa Nagajothi,Ruben Jauregui,Scott N Grossman Nagashreyaa Nagajothi
Optic disc swelling, frequently associated with vitamin A toxicity, is infrequently linked to vitamin A deficiency. This report describes a 6-year-old male with autism spectrum disorder (ASD) and avoidant restrictive food intake disorder wh...
Chanita Unhapipatpong,Natalie C Lam,Christopher Wang et al. Chanita Unhapipatpong et al.
Background/Objectives: Shortages in parenteral nutrition (PN) micronutrient components can lead to deficiencies in patients heavily relying on home PN (HPN) to meet nutritional requirements. Despite monitoring, this can cause severe and eve...
Mehrnaz Abbasi,Braeden Heath,Lauren McGinness Mehrnaz Abbasi
Background/objectives: The relationship between diet, micronutrient supplementation, and metabolic regulation emphasizes the potential of nutritional strategies to address obesity and related disorders. Certain vitamins h...
Eri Ogawa,Kenjiro Kosaki,Toshiki Takenouchi Eri Ogawa
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), wh...
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