Results 111 to 120 of about 233,323 (358)
American 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
A Novel Model of Cancer Drug Resistance: Oncosomal Release of Cytotoxic and Antibody-Based Drugs
Biology, 2020 Extracellular vesicles (EVs), such as exosomes or oncosomes, often carry oncogenic molecules derived from tumor cells. In addition, accumulating evidence indicates that tumor cells can eject anti-cancer drugs such as chemotherapeutics and targeted drugs ...
Takanori Eguchi +3 more
doaj +1 more source
Hypokalemic Distal Renal Tubular Acidosis.
Advances in Chronic Kidney Disease, 2018 Distal renal tubular acidosis (DRTA) is defined as hyperchloremic, non-anion gap metabolic acidosis with impaired urinary acid excretion in the presence of a normal or moderately reduced glomerular filtration rate.
P. Vallés, D. Batlle
semanticscholar +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
Cellular adaptations to low extracellular pH in the microenvironment of colorectal cancer and other solid tumours [PDF]
Extracellular acidosis is a powerful selection pressure in the tumour microenvironment (TME) that ultimately drives invasion and metastasis. In most normal tissues, continuous capillary perfusion clamps extracellular pH (pHe) at 7.4.
White, Bobby Rebecca
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness +11 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Mouse metabolic and behavioral phenotypes are tightly linked to strain, age and disease state, with distinct dysregulation in each disease model, underscoring the need for standardized preclinical experimental conditions. Abstract Background Metabolic and behavioral traits in mice exhibit substantial variability across strains, ages, and disease states,
Jiacheng Zeng +17 more
wiley +1 more source
AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury
, 2022 Hepatology, EarlyView.
Robert J. Fontana +6 more
wiley +1 more source
Metformin associated lactic acidosis [PDF]
, 2019 This resource is a database of published case reports of metformin associated lactic acidosis. The database comprises of demographic and clinical data extracted from each identified case of metformin associated lactic acidosis, including: article details,
Stephen Duffull (6660085) +4 more
core +1 more source