Results 271 to 280 of about 1,585,833 (365)

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

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

Another indication for the use of oral vitamin B-12 supplementation. [PDF]

Am J Clin Nutr, 2018
Alpers DH.
europepmc   +1 more source

Effect of Hog Intrinsic Factor on the Absorption of the Coenzyme Form of Vitamin B 12 (5,6–dimethylbenzimidazolylcobamide)

, 1962
Vernon G. Wong, MARCEL LACOMBE, LAWRENCE BEIZER, Kunio Okuda, Bacon F. Chow   +4 more
openalex   +1 more source

Alzheimer's Association clinical practice guideline for the Diagnostic Evaluation, Testing, Counseling, and Disclosure of Suspected Alzheimer's Disease and Related Disorders (DETeCD‐ADRD): Executive summary of recommendations for primary care

Alzheimer's &Dementia, EarlyView.
Abstract US clinical practice guidelines for the diagnostic evaluation of cognitive impairment due to Alzheimer's disease (AD) or AD and related dementias (ADRD) are decades old and aimed at specialists. This evidence‐based guideline was developed to empower all—including primary care—clinicians to implement a structured approach for evaluating a ...
Alireza Atri, Bradford C. Dickerson, Carolyn Clevenger, Jason Karlawish, David Knopman, Pei‐Jung Lin, Mary Norman, Chiadi Onyike, Mary Sano, Susan Scanland, Maria Carrillo   +10 more
wiley   +1 more source

Studies on Vitamin B<SUB>12</SUB>. I. : Thiamine as a Degradafion Factor of Cobalamins

, 1969
Kiyoshi Harada, Ichimonji Saito, Hiroshi Miura, Kazuichi Suzuki, Isamu Utsumi   +4 more
openalex   +2 more sources

Regulation of 5-Methyltetrahydrofolate:Homocysteine Methyltransferase Activity by Methionine, Vitamin B ₁₂ , and Folate in Cultured [PDF]

, 1973
Daphne Kamely, John W. Littlefield, Richard W. Erbe   +2 more
openalex   +1 more source

Establishment and characterization of liver‐specific Apoa4‐Cre and Cyp2c11‐Cre rat models in juvenile and adult stages

Animal Models and Experimental Medicine, EarlyView.
ApoA4‐Cre rats and Cyp2c11‐Cre rats were produced using CRISPR/Cas9 tool. The Cre rats were crossed with Rosa26‐imCherry rats to obtain the Apoa4‐Cre/Rosa26‐imCherry and Cyp2c11‐Cre/Rosa26‐imCherry rats, which showed the specific expression of Cre recombinases in the liver.
Wei Dong, Xiang Gao, Feifei Guan, Jirong Pan, Wei Chen, Li Zhang, Lianfeng Zhang   +6 more
wiley   +1 more source

A pilot study of vitamin B₁₂ in the treatment of tiredness [PDF]

, 1973
F.R. Ellis, Shuaib Nasser
openalex   +1 more source