Results 221 to 230 of about 310,175 (350)

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

Plasma amino acids and tissue methionine levels in fruit bats (Rousettus aegyptiacus) with nitrous oxide-induced vitamin B₁₂deficiency [PDF]

, 1985
Justin Westhuyzen, Suasn V. Van Tonder, Jayne E. Gibson, T.A. Kilroe-Smith, J. Metz   +4 more
openalex   +1 more source

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

Global prevalences of erythropoiesis-associated micronutrient deficiencies (iron, folate, and vitamin B₁₂) among pregnant women: a systematic review and meta-analysis. [PDF]

Ann Med
Nguyen NTH, Chen YC, Nhu NT, Bao HB, Hsu CY, Das A, Chao JC.   +6 more
europepmc   +1 more source

Effects of Vitamin B₁₂ and Folate Deficiency on Brain Development in Children

, 2008
Maureen M. Black
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

Vitamin A and D levels in patients with filarial lymphedema and healthy volunteers in Puducherry, India. [PDF]

Front Nutr
Venkatesan S, Sadhasivam A, Gnanasekaran V, Periyathambi M, Moosan H, Kuttiatt VS.   +5 more
europepmc   +1 more source

Vitamin B₁₂deficiency and hyperhomocysteinaemia in outpatients with stroke or transient ischaemic attack: a cohort study at an academic medical centre [PDF]

, 2019
Shamon Ahmed, Chrysi Bogiatzi, Daniel G. Hackam, Angela C. Rutledge, Luciano A. Sposato, Alexander V. Khaw, Jennifer Mandzia, Mahmoud Reza Azarpazhoo, Vladimir Hachinski, J. David Spence   +9 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