Results 191 to 200 of about 390,868 (309)
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen +5 more
wiley +1 more source
G‐CSF for Mobilizing CD34+ Cells in Individuals With SCD: A Word of Caution
American Journal of Hematology, EarlyView.
Akshay Sharma +17 more
wiley +1 more source
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg +9 more
wiley +1 more source
A stage-based framework to interpret regulatory T cell biology after heart transplantation. [PDF]
Wang Y +8 more
europepmc +1 more source
Incidence of fistulas following human pancreas transplantation [PDF]
Abendroth, D. +3 more
core +1 more source
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source
On Eurasian Association of Cardiothoracic Surgeons - EAACTS
Jamalbek I. Ashimov +1 more
doaj +1 more source
Survival in Adult Patients Undergoing Heart Transplantation 1995-2024: A Report of the RETRAC Registry. [PDF]
López-Ponce-de-León JD +17 more
europepmc +1 more source

