Results 191 to 200 of about 20,720 (264)

Kidney Replacement Therapy and Mortality in Children With Inborn Errors of Metabolism: A Meta-analysis. [PDF]

Kidney Med
Raina R, Doshi K, Sethi S, Pember B, Kumar R, Alhasan KA, Boshkos MC, Tibrewal A, Bedoyan JK.   +8 more
europepmc   +1 more source

A Case Series of Sudden Death in Children Aged 12 Months to 4 Years From LPIN1 Deficiency and PPA2 Deficiency in Queensland

Journal of Paediatrics and Child Health, EarlyView.
Sophie Manoy, Sally Smith, Marita Smith, Catherine Atthow, Janette Spicer, Matthew Lynch, Michelle Lipke, Julie A. McEniery, David Coman, Anita Inwood, Jim McGill, Carolyn Bursle   +11 more
wiley   +1 more source

Short‐ and long‐term outcome and quality of life assessment in dogs undergoing transvenous coil embolization of congenital intrahepatic portosystemic shunts

Veterinary Surgery, EarlyView.
Abstract Objective To evaluate short‐ and long‐term outcomes and health‐related quality of life (Hr‐QoL) in dogs with congenital intrahepatic portosystemic shunts (cIHPSS) treated using percutaneous transcatheter embolization (PTCE). Study design Single center retrospective and prospective study. Animals Sixty‐one client‐owned dogs.
Guillaume P. Chanoit, Peter Scott, Kieran Borgeat, Ivan Doran, Vicky Lipscomb, Ed J. Friend   +5 more
wiley   +1 more source

A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up. [PDF]

Orphanet J Rare Dis
Couce ML, Bóveda MD, Castiñeiras DE, Vázquez-Mosquera ME, Barbosa-Gouveia S, De Castro MJ, Iglesias-Rodríguez AJ, Colón C, Cocho JA, Sánchez P.   +9 more
europepmc   +1 more source

The Digital Native Paradox: A Framework for Critical Appraisal of Generative AI in Paediatric Medical Education

Journal of Paediatrics and Child Health, EarlyView.
Richard G. McGee
wiley   +1 more source

Spaceborne and spaceborn: Physiological aspects of pregnancy and birth during interplanetary flight

Experimental Physiology, EarlyView.
Abstract Crewed interplanetary return missions that are on the planning horizon will take years, more than enough time for initiation and completion of a pregnancy. Pregnancy is viewed as a sequence of processes – fertilization, blastocyst formation, implantation, gastrulation, placentation, organogenesis, gross morphogenesis, birth and neonatal ...
Arun V. Holden
wiley   +1 more source

A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism

Bender A, Ranea-Robles P, Williams EG, Mirzaian M, Heimel JA, Levelt CN, Wanders RJ, Aerts JM, Zhu J, Auwerx J, Houten SM, Argmann CA.   +11 more
europepmc   +1 more source

Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry. [PDF]

Int J Neonatal Screen
Tang C, Li L, Chen T, Li Y, Zhu B, Zhang Y, Yin Y, Liu X, Huang C, Miao J, Zhu B, Wang X, Zou H, Han L, Feng J, Huang Y.   +15 more
europepmc   +1 more source

206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China. [PDF]

Front Genet
Xiao G, Feng Z, Xu C, Huang X, Chen M, Zhao M, Li Y, Gao Y, Wu S, Shen Y, Peng Y.   +10 more
europepmc   +1 more source

A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatography. [PDF]

Mol Genet Metab Rep
Wilson KA, Zhou Y, Cunningham G, Chapman K, Summar M, Regier D.   +5 more
europepmc   +1 more source