Results 191 to 200 of about 153,961 (306)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Iron Deficiency Anemia and School Participation [PDF]

Iron-deficiency anemia is among the worldç—´ most widespread health problems, especially for children, but it is rarely studied by economists. This paper evaluates the impact of a health intervention delivering iron supplementation and deworming drugs to
Gustavo J. Bobonis
core  

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Stem cell–based therapies for type 1 diabetes: Progress in differentiation, clinical translation, and immune protection

Animal Models and Experimental Medicine, EarlyView.
Directed differentiation of pluripotent stem cells into functional pancreatic β cells have emerged as a promising strategy for the radical treatment of type 1 diabetes, with preclinical and early clinical evidence demonstrating reversal of hyperglycemia and insulin independence.
Zifan Li, Yu Kang, Yuyu Niu
wiley   +1 more source

Gut–Brain Axis Modulation by Short‐Chain Fatty Acids Exerts Disease‐Modifying Effects in a Murine Model of Drug‐Resistant Epilepsy

Annals of Neurology, EarlyView.
Objective Drug‐resistant epilepsy (DRE) remains a clinical challenge, as therapies modifying disease trajectory are lacking. Increasing evidence implicates gut microbiota dysbiosis in epilepsy pathophysiology, with short‐chain fatty acids (SCFAs) emerging as key microbial metabolites with neuroprotective and anti‐inflammatory properties.
Akash A. Bera, Rossella Di Sapia, Greta Volpedo, Sneha Anand, Eray Sahin, Pasquale Baldassarre, Francesca Buffelli, Andrea Petretto, Chiara Lavarello, James D. Mills, Gabriele Cattaneo, Ilaria Craparotta, Eleonora Aronica, Antonella Riva, Pasquale Striano, Annamaria Vezzani, Teresa Ravizza   +16 more
wiley   +1 more source

Genetically Proven Ataxia With Vitamin E Deficiency With Predominant Cervicobrachial Dystonic Presentation: A Case Report From India. [PDF]

J Mov Disord
Holla VV, Gurram S, Kamath SD, Arunachal G, Kamble N, Yadav R, Pal PK.   +6 more
europepmc   +1 more source

Subacute combined degeneration associated with vitamin E deficiency due to small bowel obstruction: A case report. [PDF]

Medicine (Baltimore), 2019
Jung JB, Kim Y, Oh K, Kim SA, Doh JH, Oh HJ, Seok JM.   +6 more
europepmc   +1 more source

STUDIES IN VITAMIN E DEFICIENCY

Journal of Biological Chemistry, 1955
openaire   +1 more source

Multiple Micronutrient Powder Reduces Vitamin E Deficiency in Brazilian Children: A Pragmatic, Controlled Clinical Trial. [PDF]

Nutrients, 2019
M C Lobo L, M Schincaglia R, G Peixoto MDR, C M Hadler MC.   +3 more
europepmc   +1 more source

Vitamin E Deficiency: An Under-Recognized Cause of Dystonia and Ataxia Syndrome.

Ann Indian Acad Neurol, 2020
Gupta HV, Swank S, Sharma VD.
europepmc   +1 more source