Results 201 to 210 of about 317,974 (348)

Nutritional status of iron and vitamin D in postpartum women in northern Taiwan. [PDF]

Front Nutr
Li SC, Chen YL, Chen CM, Tsai LY, Mu SC.
europepmc   +1 more source

Accumulation of Liver Lipids Induced by Vitamin B₆Deficiency Was Effectively Ameliorated by Choline and, to a Lesser Extent, Betaine

, 2019
Erina Kitagawa, Yuki Ota, Maki Hasegawa, Tomoyuki Nakagawa, T. Hayakawa   +4 more
openalex   +2 more sources

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

The Effects of Vitamin B₆ Deficiency on Prostacyclin Production by Cultured Endothelial Cells from Fetal Bovine Aorta

, 1987
Kazuaki SHIBATA, Michitaka Naito, Kanichi Asai, Masafumi Kuzuya, Chiaki FUNAKI, Y. Nakayama, Fumio Kuzuya   +6 more
openalex   +2 more sources

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

The top 50 cited publications in the field of vitamin B12 deficiency: A bibliometric analysis review. [PDF]

J Family Med Prim Care
Aldakhil MD, Aldakhil HA, Istanboli A, Alamri RS, Aljuhani LI, Alahmed MA, Basalamah KA, Alzibali YM, Almufleh AS, Harthi OMA, Alghamdi SAS.   +10 more
europepmc   +1 more source

A Mathematical Model Gives Insights into the Effects of Vitamin B-6 Deficiency on 1-Carbon and Glutathione Metabolism

, 2009
H. Frederik Nijhout, Jesse F. Gregory, Courtney L. Fitzpatrick, Eugenia H. Cho, Yvonne Lamers, Cornelia M. Ulrich, Michael C. Reed   +6 more
openalex   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

(Poly)Borylated Species as Modern Reactive Groups toward Unusual Synthetic Applications

Angewandte Chemie, EarlyView.
In this review, we spotlight recent breakthroughs in α‐polyboron‐substituted carbon‐centered intermediates (carbanion, carbocation, radical, and carbene) and polyborylated alkenes. By bridging fundamental reactivity with the application potential of these extraordinary species, we hope this review will serve as a roadmap for harnessing these unique ...
Nadim Eghbarieh, Nicole Hanania, Pinaki Nad, Tipu Alam, Tamir Kish, Ahmad Masarwa   +5 more
wiley   +2 more sources

Vitamin D deficiency and asthma morbidity in school-age children: a single-center cohort study. [PDF]

Front Public Health
Dong L, Li Y.
europepmc   +1 more source