Results 211 to 220 of about 418,965 (388)

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

Severely displaced rib fractures are independently associated with reduced pulmonary function at 3 months. [PDF]

World J Emerg Surg
Wang YH, Chen SA, Tee YS, Kuo LW, Cheng CT, Chan SY, Kang SC, Hsieh CH, Catena F, Liao CA.   +9 more
europepmc   +1 more source

OUT-OF-PLANE BUCKLING OF SOLID RIB ARCHES BRACED WITH TRANSVERSE BARS

, 1971
Tatsuro SAKIMOTO, Yoshio Namita
openalex   +2 more sources

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

Staged and geometry-adapted support for coal mine roadways under weak rock conditions: a numerical study. [PDF]

Sci Rep
Guo Y, Ma Q, Zhong S.
europepmc   +1 more source

Rib [PDF]

, 2020
openaire   +1 more source

Two new caenogastropod genera from the Late Triassic Cassian Formation [PDF]

, 2007
Nützel, Alexander
core   +1 more source

Thoracoscopy-assisted first rib resection for the treatment of thoracic outlet syndrome caused by fibrous dysplasia: A report of two cases

, 2015
Aierken Rehemutula, L I Zhang, Cong Yu, Lin Chen, Yudong Gu   +4 more
openalex   +2 more sources

Homelessness Service Usage Patterns of 30,000 Homeless and At‐Risk Households: The Melbourne Access Point Study

Australian Journal of Social Issues, EarlyView.
ABSTRACT Over the last three decades, overseas researchers have utilised administrative data to identify distinct patterns in shelter use. In Australia, the use of administrative data to understand service utilisation patterns among people ‘at risk’ of homelessness and experiencing homelessness is limited.
Godwin Kavaarpuo, Kathryn Daley, Guy Johnson   +2 more
wiley   +1 more source

Study on dynamic response of open web sandwich plate under near field explosive load. [PDF]

Sci Rep
Gan R, Yang H, Kuang K, Wu S, Ma K, Chen J.   +5 more
europepmc   +1 more source