Results 181 to 190 of about 1,033,375 (338)
Interpreting circulating microbiome-related metabolites in coronary heart disease. [PDF]
Sun Z, Shi M, Zheng Y.
europepmc +1 more source
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
Inflammatory dietary scores and their association with clinical outcomes in coronary heart disease. [PDF]
Zhang R +6 more
europepmc +1 more source
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta +9 more
wiley +1 more source
Integrated analysis reveals microbiota-metabolite-immune alterations associated with coronary heart disease. [PDF]
Ren B +6 more
europepmc +1 more source
Nutrition, coronary heart disease and preventive medicine [PDF]
B. Lewis
openalex +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

