Results 221 to 230 of about 512,688 (367)

Vitamin E Deficiency in a Child with Intestinal Lymphangiectasia

open access: bronze, 1970
Ototaka Higashi   +9 more
openalex   +2 more sources

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

open access: yesAmerican 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   +7 more
wiley   +1 more source

Genetic vitamin E deficiency does not affect MPTP susceptibility in the mouse brain [PDF]

open access: bronze, 2006
Yong‐Ri Ren   +8 more
openalex   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

open access: yesAmerican 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   +2 more
wiley   +1 more source

A Novel Delins Mutation in the α-TTP Gene in a Family Segregating Ataxia With Isolated Vitamin E Deficiency [PDF]

open access: bronze, 2008
Miguel Fernández‐Burriel   +6 more
openalex   +1 more source

Diglycerides of Natural Phenols and Organic Acids for Enhanced Biological Activities

open access: yesAsian 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   +10 more
wiley   +1 more source

Combined Vitamin C and Vitamin E Deficiency Worsens Early Atherosclerosis in Apolipoprotein E–Deficient Mice [PDF]

open access: bronze, 2010
Vladimir R. Babaev   +5 more
openalex   +1 more source

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