Results 191 to 200 of about 390,868 (309)

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

open access: yes
American Journal of Hematology, EarlyView.
Akshay Sharma   +17 more
wiley   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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]

open access: yesFront Cardiovasc Med
Wang Y   +8 more
europepmc   +1 more source

FK506 IN CLINICAL ORGAN-TRANSPLANTATION [PDF]

open access: yes, 1991
ABUELMAGD, K   +14 more
core  

Incidence of fistulas following human pancreas transplantation [PDF]

open access: yes, 1987
Abendroth, D.   +3 more
core   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

open access: yesHeart Vessels and Transplantation, 2018
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]

open access: yesGlob Heart
López-Ponce-de-León JD   +17 more
europepmc   +1 more source

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